ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1480G>A (p.Gly494Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004454909 SCV004944252 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.1480G>A (p.G494R) alteration is located in exon 10 (coding exon 10) of the SCN4A gene. This alteration results from a G to A substitution at nucleotide position 1480, causing the glycine (G) at amino acid position 494 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005015140 SCV005648634 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 2024-05-13 criteria provided, single submitter clinical testing

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