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_001042537.1(SLC9A6):c.137G>A (p.Gly46Asp)

CA10524597

429629 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 1ed59d6e-bfa4-49bc-b625-0b74b39858b3

HGVS expressions

NM_001042537.1:c.137G>A

NM_001042537.1(SLC9A6):c.137G>A (p.Gly46Asp)

ENST00000370695.8:c.137G>A

ENST00000370701.6:c.-20G>A

ENST00000630721.3:c.-20G>A

ENST00000636092.1:c.-20G>A

ENST00000636347.1:c.-20G>A

ENST00000637195.1:c.-20G>A

ENST00000637234.1:c.-20G>A

ENST00000637581.1:c.-20G>A

ENST00000678163.1:c.137G>A

ENST00000370695.6:c.137G>A

ENST00000370698.7:c.137G>A

ENST00000370701.5:c.-20G>A

ENST00000627534.2:c.-20G>A

NM_001177651.1:c.-20G>A

NM_006359.2:c.137G>A

NM_001330652.1:c.-20G>A

NM_001177651.2:c.-20G>A

NM_001330652.2:c.-20G>A

NM_006359.3:c.137G>A

NM_001042537.2:c.137G>A

NM_001379110.1:c.-20G>A

NC_000023.11:g.135985639G>A

CM000685.2:g.135985639G>A

NC_000023.10:g.135067798G>A

CM000685.1:g.135067798G>A

NC_000023.9:g.134895464G>A

NG_017160.1:g.5213G>A

Uncertain Significance

PS2 PM2_Supporting BS4_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.Gly46Asp variant in SLC9A6 has been reported in the mosaic state in a male patient with clinical features of Christianson syndrome (internal database) and therefore confirmed to be de novo (PS2). However the variant is not present in one affected family member with autism and developmental delays (BS4_supporting).The p.Gly46Asp variant in SLC9A6 is absent from gnomAD (PM2_supporting). Computational analysis prediction tools suggests that the p.G46D variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly46Asp variant in SLC9A6 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PS2, PM2_supporting, BS4_supporting, BP4).

PS2

The p.Gly46Asp variant in SLC9A6 gene occurs in the confirmed de novo state a mosaic male individual

PM2_Supporting

The p.G46D variant in SLC9A6 is absent from gnomAD.

BS4_Supporting

The variant is not present in one affected family brother with autism and developmental delay (variant confirmed de novo in male who is mosaic with autism, delays, hypotonia, and dysmorphic facial features).

BP4

Computational analysis prediction tools suggests that the p.G46D variant does not have a deleterious impact; however this information does not predict clinical significance on its own.

Approved on: 2021-03-26

Published on: 2021-05-17

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