ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)

dbSNP: rs1638363983
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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 RCV001370648 SCV001567170 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 272 of the HMGCL protein (p.Ala272Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. 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.
Natera, Inc. RCV001826091 SCV002094151 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-08-03 no assertion criteria provided clinical testing

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