ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3228T>A (p.Gly1076=)

gnomAD frequency: 0.00014  dbSNP: rs200393050
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720094 SCV000520455 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Invitae RCV000647816 SCV000769619 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446675 SCV002612179 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003942355 SCV004770963 likely benign SCN9A-related condition 2019-03-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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