ClinVar Miner

Submissions for variant NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)

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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 RCV002963102 SCV003288667 uncertain significance Deficiency of malonyl-CoA decarboxylase 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 358 of the MLYCD protein (p.Ser358Leu). This variant is present in population databases (rs200573073, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MLYCD-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 leucine 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.
Revvity Omics, Revvity RCV002963102 SCV003808834 uncertain significance Deficiency of malonyl-CoA decarboxylase 2021-05-01 criteria provided, single submitter clinical testing

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