ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1118A>C (p.Tyr373Ser)

dbSNP: rs1652805414
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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 RCV001912320 SCV002142750 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2022-02-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 373 of the HMGCS2 protein (p.Tyr373Ser). This variant has not been reported in the literature in individuals affected with HMGCS2-related conditions. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25").

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