ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) (rs796051992)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671866 SCV000796896 pathogenic Methylmalonic aciduria cblA type 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000186011 SCV000238973 pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing The Y129X nonsense variant in the MMAA gene has been reported previously in association with methylmalonic acidemia (MMA), cblA type in an individual who was homozygous for the Y129X variant (Lerner-Ellis et al., 2004). This variant is predicted to cause loss of normal protein function either through premature protein truncation or nonsense-mediated mRNA decay.

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