ClinVar Miner

Submissions for variant NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys) (rs1537044)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481238 SCV000565453 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing The R443C variant in the PVRL4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed at any significant frequency in approximately 6500 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 R443C 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 R443C as a variant of uncertain significance.
Invitae RCV000481238 SCV001097615 likely benign not provided 2018-01-11 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509115 SCV000607059 not provided Ectodermal dysplasia-syndactyly syndrome 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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