ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)

gnomAD frequency: 0.00004  dbSNP: rs201411232
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000946333 SCV000532664 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000444315 SCV000615114 benign not specified 2024-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498371 SCV001703121 likely benign Hyperkalemic periodic paralysis 2024-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480320 SCV002797467 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2021-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539892 SCV004761980 likely benign SCN4A-related disorder 2020-03-16 no assertion criteria provided 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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