ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) (rs1029096863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000545383 SCV000793859 pathogenic Methylmalonic aciduria cblA type 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV000545383 SCV000641767 pathogenic Methylmalonic aciduria cblA type 2016-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 196 (p.Arg196*) of 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. This particular variant has been observed as homozygous or compound heterozygous in individuals affected with methylmalonic acidemia (PMID: 21545677, 25636100, 23711287, Invitae). For these reasons, this variant has been classified as Pathogenic.

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