ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1156C>A (p.Leu386Met)

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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 RCV003108902 SCV003783381 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2023-06-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 386 of the HMGCS2 protein (p.Leu386Met). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HMGCS2 protein function. ClinVar contains an entry for this variant (Variation ID: 2416651). This variant has not been reported in the literature in individuals affected with HMGCS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual.

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