ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.8G>A (p.Arg3His)

gnomAD frequency: 0.00011  dbSNP: rs72695184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815725 SCV000956193 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2022-03-10 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: "Probably Damaging"; 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: 658831). This variant has not been reported in the literature in individuals affected with HMGCS2-related conditions. This variant is present in population databases (rs72695184, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3 of the HMGCS2 protein (p.Arg3His).
Breakthrough Genomics, Breakthrough Genomics RCV004691311 SCV005186860 uncertain significance not provided criteria provided, single submitter not provided

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