ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1078T>G (p.Ser360Ala)

dbSNP: rs1286992834
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554427 SCV000648571 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2022-03-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 360 of the HMGCS2 protein (p.Ser360Ala). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 470720). This variant has not been reported in the literature in individuals affected with HMGCS2-related conditions.

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