ClinVar Miner

Submissions for variant NM_012213.3(MLYCD):c.493C>T (p.Gln165Ter)

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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 RCV003871499 SCV004680758 pathogenic Deficiency of malonyl-CoA decarboxylase 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln165*) in the MLYCD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLYCD are known to be pathogenic (PMID: 12955715, 17186413). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MLYCD-related conditions. For these reasons, this variant has been classified as Pathogenic.

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