Evidence Repository - GenboreeKB

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_001379110.1(SLC9A6):c.638-5A>G

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA16608280

379485 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 6cabb112-0f58-41ba-b89b-4a512bbba0cc

Approved on: 2024-02-23

Published on: 2024-03-31

HGVS expressions

NM_001379110.1:c.638-5A>G

NM_001379110.1(SLC9A6):c.638-5A>G

NC_000023.11:g.136002103A>G

CM000685.2:g.136002103A>G

NC_000023.10:g.135084262A>G

CM000685.1:g.135084262A>G

NC_000023.9:g.134911928A>G

NG_017160.1:g.21677A>G

ENST00000370695.8:c.794-5A>G

ENST00000370701.6:c.638-5A>G

ENST00000630721.3:c.638-5A>G

ENST00000636092.1:c.638-5A>G

ENST00000636347.1:c.638-5A>G

ENST00000637195.1:c.542-5A>G

ENST00000637234.1:c.638-5A>G

ENST00000637581.1:c.638-5A>G

ENST00000643775.1:n.581-5A>G

ENST00000674809.1:c.581-5A>G

ENST00000675856.1:n.581-5A>G

ENST00000676043.1:c.655-5A>G

ENST00000678163.1:c.794-5A>G

ENST00000370695.6:c.794-5A>G

ENST00000370698.7:c.698-5A>G

ENST00000370701.5:c.638-5A>G

NM_001042537.1:c.794-5A>G

NM_001177651.1:c.638-5A>G

NM_006359.2:c.698-5A>G

NM_001330652.1:c.542-5A>G

NM_001177651.2:c.638-5A>G

NM_001330652.2:c.542-5A>G

NM_006359.3:c.698-5A>G

NM_001042537.2:c.794-5A>G

NM_001400909.1:c.638-5A>G

NM_001400910.1:c.638-5A>G

NM_001400911.1:c.638-5A>G

NM_001400912.1:c.638-5A>G

NM_001400913.1:c.542-5A>G

Likely Benign

BS2 BP4 BP5

BS1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The c.698-5A>G variant in SLC9A6 (NM_006359.2) is present in 26 XX and 8 XY individuals in gnomAD v4 (0.004%) (not sufficient to meet BS1 criteria). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). The c.698-5A>G variant is observed in the hemizyous state in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The c.698-5A>G variant is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5). In summary, the c.698-5A>G variant in SLC9A6 is classified as likely benign based on the ACMG/AMP criteria (BP4, BS2, BP5).

BS2

The c.698-5A>G variant is observed in the hemizyous state in at least 2 unaffected individuals (internal database - GeneDx) (BS2)

BP4

Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4).

BP5

The c.698-5A>G variant is found in a patient with an alternate molecular basis of disease (internal database-GeneDx) (BP5)

BS1

The c.698-5A>G variant in SLC9A6 (NM_006359.2) is present in 26 XX and 8 XY individuals in gnomAD v4 (0.004%) (not sufficient to meet BS1 criteria).

Curation History

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