ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)

dbSNP: rs2126617138
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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 RCV001900507 SCV002139274 pathogenic Methylmalonic aciduria, cblA type 2021-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MMAA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser46Argfs*19) 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).

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