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.-56-25C>G

CA318510

207236 (ClinVar)

Gene: SLC9A6

Condition: Christianson syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: fedd7613-3994-4ad0-919d-fd1c912dbfe7

HGVS expressions

NM_001379110.1:c.-56-25C>G

NM_001379110.1(SLC9A6):c.-56-25C>G

NC_000023.11:g.135985578C>G

CM000685.2:g.135985578C>G

NC_000023.10:g.135067737C>G

CM000685.1:g.135067737C>G

NC_000023.9:g.134895403C>G

NG_017160.1:g.5152C>G

ENST00000370695.8:c.76C>G

ENST00000370701.6:c.-56-25C>G

ENST00000630721.3:c.-56-25C>G

ENST00000636092.1:c.-56-25C>G

ENST00000636347.1:c.-35-46C>G

ENST00000637195.1:c.-35-46C>G

ENST00000637234.1:c.-56-25C>G

ENST00000637581.1:c.-56-25C>G

ENST00000678163.1:c.76C>G

ENST00000370695.6:c.76C>G

ENST00000370698.7:c.76C>G

ENST00000370701.5:c.-56-25C>G

ENST00000627534.2:c.-56-25C>G

NM_001042537.1:c.76C>G

NM_001177651.1:c.-56-25C>G

NM_006359.2:c.76C>G

NM_001330652.1:c.-56-25C>G

NM_001177651.2:c.-56-25C>G

NM_001330652.2:c.-56-25C>G

NM_006359.3:c.76C>G

NM_001042537.2:c.76C>G

NM_001400909.1:c.-35-46C>G

NM_001400910.1:c.-56-25C>G

NM_001400911.1:c.-56-25C>G

NM_001400912.1:c.-56-25C>G

NM_001400913.1:c.-56-25C>G

Likely Benign

BS2 BP5 BP4

BS1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Arg26Gly variant in SLC9A6 (NM_006359.2) is present in 2 XX and 1 XY individual(s) in gnomAD v2 (0.004%) (not sufficient to meet BS1 criteria). The p.Arg26Gly variant is observed in the hemizygous state in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The p.Arg26Gly variant is found in a patient with an alternate molecular basis of disease (internal database -GeneDx) (BP5). Computational analysis prediction tools suggest that the p.Arg26Gly variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Arg26Gly variant in SLC9A6 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5, BP4).

BS2

The p.Arg26Gly variant is observed in the hemizygous state in at least 2 unaffected individuals (internal database - GeneDx) (BS2).

BP5

The p.Arg26Gly variant is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5).

BP4

Computational analysis prediction tools suggest that the p.Arg26Gly variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).

BS1

The p.Arg26Gly variant in SLC9A6 (NM_006359.2) is present in 2 XX and 1 XY individual in gnomAD v2 (0.004%) (not sufficient to meet BS1 criteria)

Approved on: 2024-02-23

Published on: 2024-03-31

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