ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447706 SCV004175340 likely pathogenic Congenital myasthenic syndrome 16 2022-05-12 criteria provided, single submitter clinical testing The SCN4A c.3733G>A variant is classified as LIKELY PATHOGENIC (PS2, PM2, PP3) The SCN4A c.3733G>A variant is a single nucleotide change in exon 20/24 of the SCN4A gene, which is predicted to change the amino acid glycine at position 1245 in the protein to serine. This variant has been identified as a de novo variant in this patient (PS2). This variant is not in dbSNP and is absent from population databases (PM2). This variant has not been reported in the ClinVar or HGMD disease databases. Computational predictions support a deleterious effect on the gene or gene product (PP3).

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