Evidence Repository - Clinical Genome Resources

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

Link to SEPIO compliant JSON-LD document

Variant: NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)

CA518490677

1143525 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: ee447fa7-9938-4d43-a86c-e80ccffc80c5

HGVS expressions

NM_001379110.1:c.81G>A

NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)

NC_000023.11:g.135985739G>A

CM000685.2:g.135985739G>A

NC_000023.10:g.135067898G>A

CM000685.1:g.135067898G>A

NC_000023.9:g.134895564G>A

NG_017160.1:g.5313G>A

ENST00000370695.8:c.237G>A

ENST00000370701.6:c.81G>A

ENST00000630721.3:c.81G>A

ENST00000636092.1:c.81G>A

ENST00000636347.1:c.81G>A

ENST00000637195.1:c.81G>A

ENST00000637234.1:c.81G>A

ENST00000637581.1:c.81G>A

ENST00000643775.1:n.24G>A

ENST00000674809.1:c.24G>A

ENST00000675550.1:n.22G>A

ENST00000675856.1:n.24G>A

ENST00000676043.1:c.24G>A

ENST00000678163.1:c.237G>A

ENST00000370695.6:c.237G>A

ENST00000370698.7:c.237G>A

ENST00000370701.5:c.81G>A

ENST00000627534.2:c.81G>A

NM_001042537.1:c.237G>A

NM_001177651.1:c.81G>A

NM_006359.2:c.237G>A

NM_001330652.1:c.81G>A

NM_001177651.2:c.81G>A

NM_001330652.2:c.81G>A

NM_006359.3:c.237G>A

NM_001042537.2:c.237G>A

NM_001400909.1:c.81G>A

NM_001400910.1:c.81G>A

NM_001400911.1:c.81G>A

NM_001400912.1:c.81G>A

NM_001400913.1:c.81G>A

Uncertain Significance

PM2_Supporting BP4

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The c.237G>A (p.Leu79=) variant in SLC9A6 (NM_006359.2) is absent from gnomAD (PM2_supporting). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the p.Leu79= variant in SLC9A6 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_supporting, BP4).

PM2_Supporting

The c.237G>A (p.Leu79=) variant in SLC9A6 (NM_006359.2) is absent from gnomAD (PM2_supporting).

BP4

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

Approved on: 2023-10-13

Published on: 2023-12-11

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.