ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) (rs104893846)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003308 SCV000793358 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2017-08-15 criteria provided, single submitter clinical testing
Invitae RCV000003308 SCV001419137 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2019-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln95*) in the MMAA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs104893846, ExAC 0.03%). This variant has been observed in individuals affected with methylmalonic aciduria due to cobalamin A deficiency (PMID: 15523652). ClinVar contains an entry for this variant (Variation ID: 3158). Loss-of-function variants in MMAA are known to be pathogenic (PMID: 15523652, 15781192). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003308 SCV000023466 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2002-11-26 no assertion criteria provided literature only
GeneReviews RCV000003308 SCV000258472 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblA 2016-01-07 no assertion criteria provided literature only

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