ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu)

gnomAD frequency: 0.00002  dbSNP: rs201367621
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707788 SCV000721570 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001222363 SCV001394460 likely benign Familial hyperkalemic periodic paralysis 2024-10-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001707788 SCV003818748 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530787 SCV004118355 uncertain significance SCN4A-related disorder 2023-05-24 criteria provided, single submitter clinical testing The SCN4A c.2861C>T variant is predicted to result in the amino acid substitution p.Pro954Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.056% of alleles in individuals of South Asian descent in gnomAD, indicating it may be too common to be causative for an autosomal dominant disorder (http://gnomad.broadinstitute.org/variant/17-62026881-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004669056 SCV005157673 likely benign Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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