ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg)

gnomAD frequency: 0.00004  dbSNP: rs764292245
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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 RCV002049534 SCV002107846 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 14 of the HMGCL protein (p.Gly14Arg). This variant is present in population databases (rs764292245, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1352744). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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