ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1560+1G>T (rs200019422)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669261 SCV000793996 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV000669261 SCV000932331 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-08-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the MUT gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another MUT variant in several individuals affected with methylmalonic aciduria (PMID: 15643616, 17075691). 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.

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