ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1082A>G (p.Gln361Arg)

gnomAD frequency: 0.00001  dbSNP: rs1286357569
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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 RCV001228982 SCV001401412 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 361 of the HMGCS2 protein (p.Gln361Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HMGCS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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