ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu) (rs273585618)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000490000 SCV000780542 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000490000 SCV000577767 likely pathogenic not provided 2015-05-21 criteria provided, single submitter clinical testing The P900L variant was not observed in approximately 2,200 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 P900L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The P900L variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Illumina Clinical Services Laboratory,Illumina RCV000371799 SCV000399301 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing
Willoughby Group, Queen's University Belfast RCV000114778 SCV000148673 pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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