ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.639del (p.Arg214fs)

dbSNP: rs2126622813
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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 RCV001931901 SCV002123755 pathogenic Methylmalonic aciduria, cblA type 2021-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg214Glufs*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). 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).
PreventionGenetics, part of Exact Sciences RCV003401788 SCV004104237 likely pathogenic MMAA-related disorder 2023-02-27 criteria provided, single submitter clinical testing The MMAA c.639delT variant is predicted to result in a frameshift and premature protein termination (p.Arg214Glufs*4). To our knowledge, this variant has not been reported in the literature. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MMAA are expected to be pathogenic (see, for example, Martínez et al. 2005. PubMed ID: 15781192; Lerner-Ellis et al. 2004. PubMed ID: 15523652). Taken together, this variant is interpreted as likely pathogenic.

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