ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.160G>A (p.Val54Met)

gnomAD frequency: 0.00001  dbSNP: rs28937320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000009843 SCV001546341 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 54 of the HMGCS2 protein (p.Val54Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with HMG-CoA synthase deficiency (PMID: 12647205). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 9261). 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.
OMIM RCV000009843 SCV000030064 pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2003-04-01 no assertion criteria provided literature only

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