ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.613C>T (p.Arg205Cys) (rs376411072)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485952 SCV000574102 likely pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing A variant that is likely pathogenic has also been identified in the ISPD gene. The R205C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, a different variant at the same position (R205H) has been reported previously in an individual with Walker-Warburg syndrome who had a deletion on the opposite ISPD allele (Czeschik et al., 2013). The R205C 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 R205C 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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