ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.713_714del (p.Ile238fs)

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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 RCV002903527 SCV003252179 pathogenic Methylmalonic aciduria, cblA type 2023-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile238Asnfs*4) in the MMAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMAA are known to be pathogenic (PMID: 15523652, 15781192). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2044227). This variant has not been reported in the literature in individuals affected with MMAA-related conditions.

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