ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.468G>A (p.Trp156Ter) (rs1884201610)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035736 SCV001199071 pathogenic Vitamin B12-responsive methylmalonic acidemia type cblB 2019-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp156*) 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 not been reported in the literature in individuals with MMAB-related conditions. Loss-of-function variants in MMAB are known to be pathogenic (PMID: 15781192, 16410054). For these reasons, this variant has been classified as Pathogenic.

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