ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)

gnomAD frequency: 0.00001  dbSNP: rs778061862
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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 RCV000817813 SCV000958396 uncertain significance Holocarboxylase synthetase deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 296 of the HLCS protein (p.Val296Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs778061862, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV000817813 SCV002083738 uncertain significance Holocarboxylase synthetase deficiency 2021-06-24 no assertion criteria provided clinical testing

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