ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) (rs772888575)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853349 SCV000996211 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-11-15 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.2114T>G (p.Ile705Arg) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Multiple pathogenic variants have been reported Based on the available evidence, the c.2114T>G (p.Ile705Arg) variant is classified as likely pathogenic

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