ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val)

gnomAD frequency: 0.00001  dbSNP: rs371779795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554442 SCV000658553 likely benign Familial hyperkalemic periodic paralysis 2024-08-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004247 SCV002784187 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-01-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139863 SCV003821272 uncertain significance not provided 2021-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024399 SCV004944260 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.3058C>G (p.L1020V) alteration is located in exon 16 (coding exon 16) of the SCN4A gene. This alteration results from a C to G substitution at nucleotide position 3058, causing the leucine (L) at amino acid position 1020 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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