ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1677-1G>A (rs754369323)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664627 SCV000788623 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV000664627 SCV000934490 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-08-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 of the MUT 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 (rs754369323, ExAC 0.01%). This variant has been observed in individuals affected with methylmalonic acidemia (PMID: 16281286, 26454439, 17113806, 23430940). 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 MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.
SingHealth Duke-NUS Institute of Precision Medicine RCV000664627 SCV000853113 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-06-07 no assertion criteria provided curation

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