ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)

dbSNP: rs1570652345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815363 SCV000955812 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2018-08-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HMGCL-related disease. 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: "Benign"; Align-GVGD: "Class C15"). 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. This sequence change replaces threonine with asparagine at codon 73 of the HMGCL protein (p.Thr73Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine.

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