ClinVar Miner

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

dbSNP: rs2136208377
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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 Methylmalonic aciduria, cblB type 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1068489). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria due to cobalamin B deficiency (PMID: 30041674). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in MMAB are known to be pathogenic (PMID: 15781192, 16410054).
Baumgartner lab, University Children's Hospital Zurich RCV001380085 SCV001738455 pathogenic Methylmalonic aciduria, cblB type 2021-06-01 no assertion criteria provided clinical testing

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