ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.35T>A (p.Leu12Gln)

gnomAD frequency: 0.00004  dbSNP: rs939049952
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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 RCV001911824 SCV002124945 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2020-12-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with HMGCS2-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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with glutamine at codon 12 of the HMGCS2 protein (p.Leu12Gln). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and glutamine.

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