ClinVar Miner

Submissions for variant NM_005918.4(MDH2):c.890dup (p.Ile299fs)

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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 RCV005122075 SCV005747630 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile299Hisfs*14) in the MDH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the MDH2 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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