ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.184A>G (p.Met62Val)

gnomAD frequency: 0.00002  dbSNP: rs373738626
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001280068 SCV002783628 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2022-05-02 criteria provided, single submitter clinical testing
Invitae RCV001280068 SCV003518689 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 62 of the HMGCL protein (p.Met62Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs373738626, ExAC 0.009%). 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 tolerated. 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.
Genome-Nilou Lab RCV001280068 SCV004172725 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280068 SCV001467219 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2020-08-28 no assertion criteria provided clinical testing

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