ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.291-1G>A (rs199971687)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203348 SCV000794835 pathogenic Methylmalonic aciduria cblB type 2017-10-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727663 SCV000854971 pathogenic not provided 2018-04-23 criteria provided, single submitter clinical testing
GeneReviews RCV000203348 SCV000258524 pathogenic Methylmalonic aciduria cblB type 2016-01-07 no assertion criteria provided literature only
Invitae RCV000203348 SCV000827425 pathogenic Methylmalonic aciduria cblB type 2018-10-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the MMAB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs199971687, ExAC 0.002%). This variant has been observed in individuals with cblB-type methylmalonic aciduria (PMID: 16410054, 17957493, 23707710). ClinVar contains an entry for this variant (Variation ID: 219004). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000203348 SCV000023400 pathogenic Methylmalonic aciduria cblB type 2002-12-15 no assertion criteria provided literature only

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