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]

Variant: NM_001042537.1(SLC9A6):c.2T>G (p.Met1Arg)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA16608696

383439 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: edd71aa4-4781-4084-94db-45b76d126d9a

Approved on: 2021-03-24

Published on: 2021-05-10

HGVS expressions

NM_001042537.1:c.2T>G

NM_001042537.1(SLC9A6):c.2T>G (p.Met1Arg)

ENST00000370695.8:c.2T>G

ENST00000370701.6:c.-57+27T>G

ENST00000630721.3:c.-57+27T>G

ENST00000636092.1:c.-56-99T>G

ENST00000636347.1:c.-35-120T>G

ENST00000637195.1:c.-35-120T>G

ENST00000637234.1:c.-56-99T>G

ENST00000637581.1:c.-56-99T>G

ENST00000678163.1:c.2T>G

ENST00000370695.6:c.2T>G

ENST00000370698.7:c.2T>G

ENST00000370701.5:c.-57+27T>G

ENST00000627534.2:c.-57+32T>G

NM_001177651.1:c.-57+27T>G

NM_006359.2:c.2T>G

NM_001330652.1:c.-57+32T>G

NM_001177651.2:c.-57+27T>G

NM_001330652.2:c.-57+32T>G

NM_006359.3:c.2T>G

NM_001042537.2:c.2T>G

NM_001379110.1:c.-57+27T>G

NC_000023.11:g.135985504T>G

CM000685.2:g.135985504T>G

NC_000023.10:g.135067663T>G

CM000685.1:g.135067663T>G

NC_000023.9:g.134895329T>G

NG_017160.1:g.5078T>G

Uncertain Significance

PVS1_Supporting PM2_Supporting

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 p.Met1? variant in SLC9A6 may cause a truncated or absent protein by altering the start codon of the coding sequence, however, to date, there is no additional evidence to support that the loss of this methionine is associated with disease (PVS1_supporting). The p.Met1? variant in SLC9A6 is absent from gnomAD (PM2_supporting). In summary, the p.Met1? variant in SLC9A6 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (PVS1_supporting, PM2_supporting).

PVS1_Supporting

The c.2T>C (p.M1?) variant in SLC9A6 may cause a truncated or absent protein by altering the start codon of the coding sequence (PVS1_supporting).

PM2_Supporting

The c.2T>C (p.M1?) variant in SLC9A6 is absent from gnomAD.

Curation History

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