ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.436A>G (p.Ser146Gly)

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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 RCV005181522 SCV005813941 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2024-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 146 of the HMGCL protein (p.Ser146Gly). This variant is present in population databases (rs749440251, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt HMGCL protein function with a negative predictive value of 80%. 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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