ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.733+1G>A

gnomAD frequency: 0.00001  dbSNP: rs779939886
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000203316 SCV000606790 pathogenic Methylmalonic aciduria, cblA type criteria provided, single submitter clinical testing
Counsyl RCV000203316 SCV000790060 likely pathogenic Methylmalonic aciduria, cblA type 2017-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000203316 SCV001396170 pathogenic Methylmalonic aciduria, cblA type 2023-09-13 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individuals with methylmalonic aciduria (PMID: 15523652, 27858373, 28497574). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 218978). This variant is present in population databases (rs779939886, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 4 of the MMAA 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 MMAA are known to be pathogenic (PMID: 15523652, 15781192).
Baylor Genetics RCV000203316 SCV005058040 pathogenic Methylmalonic aciduria, cblA type 2024-01-29 criteria provided, single submitter clinical testing
GeneReviews RCV000203316 SCV000258480 not provided Methylmalonic aciduria, cblA type no assertion provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729456 SCV001979502 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729456 SCV001980010 pathogenic not provided no assertion criteria provided clinical testing

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