ClinVar Miner

Submissions for variant NM_005918.4(MDH2):c.543del (p.Ala182fs)

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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 RCV003697281 SCV004465694 pathogenic not provided 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala182Glnfs*3) in the MDH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MDH2 are known to be pathogenic (PMID: 27989324). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MDH2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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