ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.880G>A (p.Asp294Asn)

gnomAD frequency: 0.00003  dbSNP: rs144103604
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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 RCV001040515 SCV001204094 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2019-02-07 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with HMGCS2-related conditions. This variant is present in population databases (rs144103604, ExAC 0.009%). This sequence change replaces aspartic acid with asparagine at codon 294 of the HMGCS2 protein (p.Asp294Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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