ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn)

gnomAD frequency: 0.00001  dbSNP: rs1345007864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544825 SCV001764035 uncertain significance not provided 2020-04-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV005014584 SCV005649631 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-02-21 criteria provided, single submitter clinical testing
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences RCV002305614 SCV002600049 uncertain significance Hypokalemic periodic paralysis, type 1 2022-04-12 no assertion criteria provided research

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