ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) (rs201766106)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413335 SCV000491014 likely pathogenic not provided 2016-03-21 criteria provided, single submitter clinical testing The R166C variant in the ABCC6 gene has been reported previously in two siblings with pseudoxanthoma elasticum (PXE) in the compound heterozygous state with an ABCC6 gene deletion. The female sibling was reported to have typical PXE with complete and severe skin, eye, and vascular involvement, whereas the male sibling was reported to have atypical PXE without skin or vascular involvement (Martin et al., 2008). The R166C variant was not observed at any significant frequency in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R166C 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 not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. The R166C variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000413335 SCV000703853 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
PXE International RCV000499286 SCV000589220 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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