ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.422-1G>C

dbSNP: rs2136199436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001527450 SCV002285316 likely pathogenic Methylmalonic aciduria, cblB type 2022-05-07 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the MMAB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MMAB are known to be pathogenic (PMID: 15781192, 16410054). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with cobalamin B type methylmalonic aciduria (PMID: 34796408). ClinVar contains an entry for this variant (Variation ID: 1173995). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baumgartner lab, University Children's Hospital Zurich RCV001527450 SCV001738460 pathogenic Methylmalonic aciduria, cblB type 2021-06-01 no assertion criteria provided clinical testing

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