ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) (rs398124119)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080916 SCV000331105 pathogenic not provided 2012-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000080916 SCV000680917 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing The R59X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, other nonsense variants downstream of this position in the protein havebeen reported in the Human Gene Mutation Database in association with COL6A3-related disorders(Stenson et al., 2014). However, the R59X variant is observed in 12/34380 (0.04%) alleles fromindividuals of Latino background, in large population cohorts (Lek et al., 2016). Therefore, thisvariant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000280500 SCV000845282 pathogenic Ullrich congenital muscular dystrophy 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714578 SCV000845283 pathogenic Dystonia 27 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000319162 SCV000845284 pathogenic Bethlem myopathy 1 2018-08-07 criteria provided, single submitter clinical testing

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