ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.423G>A (p.Ala141=)

gnomAD frequency: 0.00001  dbSNP: rs547142339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612888 SCV000715162 likely benign not specified 2017-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001506764 SCV001711698 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498901 SCV002805810 likely benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271721 SCV001453069 likely benign Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-09-16 no assertion criteria provided clinical testing

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