ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.649A>G (p.Met217Val)

dbSNP: rs767993106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202173 SCV001373278 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 217 of the HMGCL protein (p.Met217Val). This variant is present in population databases (rs767993106, gnomAD 0.0009%). This missense change has been observed in individual(s) with sudden unexpected death (PMID: 28747690). ClinVar contains an entry for this variant (Variation ID: 933871). 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"). 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.
Natera, Inc. RCV001833773 SCV002094157 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-04-21 no assertion criteria provided clinical testing

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