ClinVar Miner

Submissions for variant NM_001006657.2(WDR35):c.355C>T (p.Arg119Cys) (rs140308808)

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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 RCV000356360 SCV000331377 benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375021 SCV000426062 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280618 SCV000426063 uncertain significance Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000356360 SCV000597947 uncertain significance not specified 2015-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000767100 SCV000617020 uncertain significance not provided 2019-01-07 criteria provided, single submitter clinical testing The R119C variant in the WDR35 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. An external variant database reports R119C was observed in 35/8600 (0.41%) alleles from individuals of European background; however, this variant was not observed in the homozygous state in any individual within this population. The R119C 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. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R119C as a variant of uncertain significance.

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