ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu)

gnomAD frequency: 0.00001  dbSNP: rs766097440
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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 RCV001928499 SCV002183742 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2021-12-02 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is present in population databases (rs766097440, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 392 of the HMGCS2 protein (p.Ser392Leu).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001928499 SCV005416837 likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency criteria provided, single submitter clinical testing PM2_Supporting+PS3+PM3

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