ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1084-10A>G (rs777031588)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732448 SCV000239009 pathogenic not provided 2021-08-17 criteria provided, single submitter clinical testing Published functional studies demonstrate c.1084-10 A>G results in activation of a cryptic splice site, supporting a damaging effect (Forny et al., 2016; Brasil et al., 2018); This variant is associated with the following publications: (PMID: 27167370, 30041674, 23430940, 31622506, 27535533, 27591164)
Invitae RCV000732448 SCV000763816 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the MUT gene. It does not directly change the encoded amino acid sequence of the MUT protein. This variant is present in population databases (rs777031588, ExAC 0.03%). This variant has been reported in combination with another MUT variant in individuals affected with methylmalonic aciduria (PMID: 23430940, Invitae). ClinVar contains an entry for this variant (Variation ID: 203845). 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. For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732448 SCV000860408 pathogenic not provided 2018-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000642162 SCV000800784 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-30 no assertion criteria provided clinical testing

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