Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_014297.4(ETHE1):c.378G>A (p.Ala126=)

CA9487866

379605 (ClinVar)

Gene: ETHE1
Condition: ethylmalonic encephalopathy
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 98027f68-f325-465f-995f-3d43c584a681
Approved on: 2020-08-18
Published on: 2021-10-22

HGVS expressions

NM_014297.4:c.378G>A
NM_014297.4(ETHE1):c.378G>A (p.Ala126=)
NC_000019.10:g.43511564C>T
CM000681.2:g.43511564C>T
NC_000019.9:g.44015716C>T
CM000681.1:g.44015716C>T
NC_000019.8:g.48707556C>T
NG_008141.1:g.20681G>A
ENST00000292147.7:c.378G>A
ENST00000292147.6:c.378G>A
ENST00000594342.5:c.229G>A
ENST00000598330.1:c.229G>A
ENST00000600651.5:c.378G>A
ENST00000602138.1:c.*382G>A
NM_014297.3:c.378G>A
NM_001320867.1:c.345G>A
NM_001320868.1:c.9G>A
NM_001320869.1:c.84G>A
NM_014297.5:c.378G>A
NM_001320867.2:c.345G>A
NM_001320868.2:c.9G>A
NM_001320869.2:c.84G>A
NM_014297.5(ETHE1):c.378G>A (p.Ala126=)
More

Benign

Met criteria codes 3
BS2 BP7 BA1
Not Met criteria codes 17
BS4 BS3 PS1 PS2 PS3 PS4 BP5 BP4 BP2 PP1 PP3 PP4 PM1 PM3 PM5 PM6 PM2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The filtering allele frequency of the c.378G>A variant in the ETHE1 gene is >0.2% by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Mito Variant Curation Expert Panel (BA1)
Met criteria codes
BS2
Individual reported homzygous for variant in gnomAD.
BP7
This mutations is confirmed as a synonymous missense mutation.
BA1
Allele frequency has per ExAC is estimated to be 0.00262 which is higher than cutoff proposed for ETHE1 variants of 0.001.
Not Met criteria codes
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
This condition is inherited in an autosomal recessive manner and is penetrant
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
Data is only available from one computational predictor (CADD) which supports benign classification.
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
ETHE1 is a small gene with no established hot spots
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
This condition is inherited in an autosomal recessive manner, with no reports of de novo variants
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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