ClinVar Miner

Submissions for variant NM_176787.4(PIGN):c.283C>T (p.Arg95Trp) (rs558341655)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623425 SCV000740783 uncertain significance Inborn genetic diseases 2015-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514477 SCV000606863 pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000514477 SCV000514115 uncertain significance not provided 2016-02-20 criteria provided, single submitter clinical testing The R95W variant in the PIGN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R95W variant was not observed 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 R95W 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 predicts this variant is probably damaging to the protein structure/function. We interpret R95W as a variant of uncertain significance.

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