ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) (rs200990851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724069 SCV000231345 uncertain significance not provided 2014-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000724069 SCV000620121 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing The R2041W variant in the DYSF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2041W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R2041W as a variant of uncertain significance.

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