ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys)

dbSNP: rs376669368
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520906 SCV000618006 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing This substitution is predicted to be within the C-terminal cytoplasmic domain; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with a neurodevelopmental disorder to our knowledge; This variant is associated with the following publications: (PMID: 18804930)
Invitae RCV000636264 SCV000757703 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358408 SCV002652203 uncertain significance Inborn genetic diseases 2019-05-13 criteria provided, single submitter clinical testing The p.Y1926C variant (also known as c.5777A>G), located in coding exon 26 of the SCN1A gene, results from an A to G substitution at nucleotide position 5777. The tyrosine at codon 1926 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000520906 SCV003932188 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing PP2, PP3

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