ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4678C>T (p.Pro1560Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004529826 SCV004111253 uncertain significance SCN4A-related disorder 2022-12-22 criteria provided, single submitter clinical testing The SCN4A c.4678C>T variant is predicted to result in the amino acid substitution p.Pro1560Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005021938 SCV005649648 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 2024-05-31 criteria provided, single submitter clinical testing

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