ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.7267C>A (p.Pro2423Thr) (rs199727372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724940 SCV000332568 uncertain significance not provided 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000309944 SCV000577586 uncertain significance not specified 2017-08-08 criteria provided, single submitter clinical testing The P2395T variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P2395T variant is observed in 3/380 (0.79%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P2395T 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. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P2395T as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000298464 SCV000399394 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

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