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]

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Variant: NM_001379110.1(SLC9A6):c.1768-6A>G

CA644626142

436774 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 909beb37-8b4e-46b0-88d8-1ecf70978f86

Approved on: 2023-10-13

Published on: 2023-12-11

HGVS expressions

NM_001379110.1:c.1768-6A>G

NM_001379110.1(SLC9A6):c.1768-6A>G

NC_000023.11:g.136044446A>G

CM000685.2:g.136044446A>G

NC_000023.10:g.135126605A>G

CM000685.1:g.135126605A>G

NC_000023.9:g.134954271A>G

NG_017160.1:g.64020A>G

ENST00000370695.8:c.1834-6A>G

ENST00000370701.6:c.1678-6A>G

ENST00000630721.3:c.1768-6A>G

ENST00000636092.1:c.1678-6A>G

ENST00000636206.2:n.1008-6A>G

ENST00000636347.1:c.1678-6A>G

ENST00000636625.1:n.669-6A>G

ENST00000636798.1:n.1113-6A>G

ENST00000637195.1:c.1582-6A>G

ENST00000637234.1:c.1678-6A>G

ENST00000637581.1:c.1678-6A>G

ENST00000676233.1:n.1001-6A>G

ENST00000678163.1:c.1924-6A>G

ENST00000370695.6:c.1834-6A>G

ENST00000370698.7:c.1738-6A>G

ENST00000370701.5:c.1678-6A>G

ENST00000626147.1:n.567-6A>G

ENST00000630721.1:c.414-6A>G

NM_001042537.1:c.1834-6A>G

NM_001177651.1:c.1678-6A>G

NM_006359.2:c.1738-6A>G

NM_001330652.1:c.1582-6A>G

NM_001177651.2:c.1678-6A>G

NM_001330652.2:c.1582-6A>G

NM_006359.3:c.1738-6A>G

NM_001042537.2:c.1834-6A>G

NM_001400909.1:c.1678-6A>G

NM_001400910.1:c.1678-6A>G

NM_001400911.1:c.1678-6A>G

NM_001400912.1:c.1678-6A>G

NM_001400913.1:c.1582-6A>G

Likely Benign

BP4 BS1

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 allele frequency of the c.1738-6A>G variant in SLC9A6 (NM_006359.2) is 0.02% in the Other sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.1738-6A>G variant in SLC9A6 is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP4).

BP4

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

BS1

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