ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.585-2A>C

dbSNP: rs1555274254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665914 SCV000790120 pathogenic Methylmalonic aciduria, cblB type 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665914 SCV002233078 pathogenic Methylmalonic aciduria, cblB type 2023-08-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 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 individuals with methylmalonic aciduria (PMID: 16410054). ClinVar contains an entry for this variant (Variation ID: 550985). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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