ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.393-1C>T

gnomAD frequency: 0.00001  dbSNP: rs1199378574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654657 SCV000776554 pathogenic Hyperkalemic periodic paralysis 2024-04-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the SCN4A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SCN4A are known to be pathogenic (PMID: 26700687). This variant is present in population databases (no rsID available, gnomAD 0.005%). Disruption of this splice site has been observed in individual(s) with clinical features of autosomal recessive SCN4A-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 543805). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002477458 SCV002785803 uncertain significance Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2021-09-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140044 SCV003821269 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing

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