ClinVar Miner

Submissions for variant NM_012213.3(MLYCD):c.478_479insGGGCG (p.Asp160fs)

dbSNP: rs760768992
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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 RCV001890786 SCV002160269 pathogenic Deficiency of malonyl-CoA decarboxylase 2024-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp160Glyfs*21) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MLYCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1390007). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001890786 SCV005646278 likely pathogenic Deficiency of malonyl-CoA decarboxylase 2024-03-30 criteria provided, single submitter clinical testing

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