ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4930G>T (p.Val1644Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136496 SCV003821259 uncertain significance not provided 2020-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003358144 SCV004080115 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.4930G>T (p.V1644L) alteration is located in exon 24 (coding exon 24) of the SCN4A gene. This alteration results from a G to T substitution at nucleotide position 4930, causing the valine (V) at amino acid position 1644 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029913 SCV005649632 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 2024-06-12 criteria provided, single submitter clinical testing

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