ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4704C>T (p.Cys1568=)

gnomAD frequency: 0.00003  dbSNP: rs548305586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495805 SCV001700494 likely benign Hyperkalemic periodic paralysis 2024-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000943250 SCV002504524 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV004962962 SCV005500103 likely benign Inborn genetic diseases 2024-09-04 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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