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_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr)

CA318518

207239 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 8f2ff5f7-85a1-40c8-9cc2-708b3fd42382

HGVS expressions

NM_001042537.1:c.643G>A

NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr)

NC_000023.11:g.135998521G>A

CM000685.2:g.135998521G>A

NC_000023.10:g.135080680G>A

CM000685.1:g.135080680G>A

NC_000023.9:g.134908346G>A

NG_017160.1:g.18095G>A

ENST00000370695.8:c.643G>A

ENST00000370701.6:c.487G>A

ENST00000630721.3:c.487G>A

ENST00000636092.1:c.487G>A

ENST00000636347.1:c.487G>A

ENST00000637195.1:c.391G>A

ENST00000637234.1:c.487G>A

ENST00000637581.1:c.487G>A

ENST00000643775.1:n.430G>A

ENST00000674809.1:c.430G>A

ENST00000675550.1:n.428G>A

ENST00000675856.1:n.430G>A

ENST00000676043.1:c.430G>A

ENST00000678163.1:c.643G>A

ENST00000370695.6:c.643G>A

ENST00000370698.7:c.547G>A

ENST00000370701.5:c.487G>A

ENST00000627534.2:c.487G>A

NM_001177651.1:c.487G>A

NM_006359.2:c.547G>A

NM_001330652.1:c.391G>A

NM_001177651.2:c.487G>A

NM_001330652.2:c.391G>A

NM_006359.3:c.547G>A

NM_001042537.2:c.643G>A

NM_001379110.1:c.487G>A

NM_001400909.1:c.487G>A

NM_001400910.1:c.487G>A

NM_001400911.1:c.487G>A

NM_001400912.1:c.487G>A

NM_001400913.1:c.391G>A

NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)

Uncertain Significance

BP5 PM2_Supporting BS2_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 p.Ala215Thr variant in SLC9A6 is absent from gnomAD (PM2_supporting). The p.Ala163Thr variant is observed in at least 1 unaffected individual (internal database) (BS2_Supporting). The p.Ala215Thr variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Ala215Thr variant in the SLC9A6 gene is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_supporting, BS2_Supporting, BP5).

BP5

This variant is found hemizygous in a patient with an alternate molecular basis of disease (internal database)

PM2_Supporting

The p.A183T variant in SLC9A6 is absent from gnomAD.

BS2_Supporting

The p.Ala163Thr variant is observed in at least 1 unaffected individual (internal database).

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Approved on: 2023-08-28

Published on: 2023-09-15

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