ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)

dbSNP: rs1638362250
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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 RCV001993960 SCV002257610 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2021-11-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 292 of the HMGCL protein (p.Thr292Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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