ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)

dbSNP: rs1398374184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420655 SCV001622983 uncertain significance Severe myoclonic epilepsy in infancy 2020-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859331 SCV002301009 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1098694). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 682 of the SCN1A protein (p.Gly682Arg).
Ambry Genetics RCV002420944 SCV002719823 uncertain significance Inborn genetic diseases 2018-07-10 criteria provided, single submitter clinical testing The p.G682R variant (also known as c.2044G>A) is located in coding exon 12 of the SCN1A gene. The glycine at codon 682 is replaced by arginine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 12. This amino acid position is 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.

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