ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)

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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 RCV003513391 SCV004281687 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2023-07-12 criteria provided, single submitter clinical testing 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 HMGCL protein function. This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.1%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 289 of the HMGCL protein (p.Gly289Asp).

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