ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)

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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 RCV002584600 SCV002943361 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2023-07-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1909103). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 265 of the HMGCL protein (p.Gly265Ser). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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