ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.502G>A (p.Gly168Ser)

gnomAD frequency: 0.00005  dbSNP: rs746217014
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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 RCV001041480 SCV001205101 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 168 of the HMGCS2 protein (p.Gly168Ser). This variant is present in population databases (rs746217014, gnomAD 0.006%). This missense change has been observed in individual(s) with 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (PMID: 25511235). ClinVar contains an entry for this variant (Variation ID: 839670). 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 disruptive. 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.

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