ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380085 SCV001578030 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblB 2020-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu74*) in the MMAB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with methylmalonic aciduria due to cobalamin B deficiency (PMID: 30041674). Loss-of-function variants in MMAB are known to be pathogenic (PMID: 15781192, 16410054). For these reasons, this variant has been classified as Pathogenic.
Baumgartner lab,University Children's Hospital Zurich RCV001380085 SCV001738455 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblB 2021-06-01 no assertion criteria provided clinical testing

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