ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) (rs1238694184)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670351 SCV000795192 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001193331 SCV001362082 pathogenic Methylmalonic acidemia 2019-10-10 criteria provided, single submitter clinical testing Variant summary: MUT c.1741C>T (p.Arg581X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251212 control chromosomes. c.1741C>T has been reported in the literature in multiple individuals affected with Methylmalonic Acidemia in the homozygous and compound heterozygous state (Chu_2016, Harrington_2016, Liu_2012, Worgan_2006). These data indicate that the variant is very likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200471 SCV001371443 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing

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