ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.428C>G (p.Thr143Arg)

dbSNP: rs760689678
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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 RCV001235292 SCV001407971 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2019-09-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs760689678, ExAC 0.009%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with HMGCS2-related conditions. This sequence change replaces threonine with arginine at codon 143 of the HMGCS2 protein (p.Thr143Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine.

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