ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)

dbSNP: rs2138868637
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532694 SCV001748362 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873779 SCV002284761 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-05-10 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 1176944). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1050 of the SCN8A protein (p.Gly1050Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN8A-related conditions.
3billion RCV002051944 SCV002318696 uncertain significance Developmental and epileptic encephalopathy, 13 2022-03-22 criteria provided, single submitter clinical testing Different pathogenic/likely pathogenic amino acid change has been reported with supporting evidence at the same codon (PMID:25666757). A missense variant is a common mechanism associated . It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Revvity Omics, Revvity RCV001532694 SCV004237185 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing

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