ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9368G>A (p.Arg3123His) (rs536601676)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485496 SCV000573959 uncertain significance not specified 2017-03-09 criteria provided, single submitter clinical testing The R3095H variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has not been detected at a significant frequency in presumably healthy individuals tested at GeneDx (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R3095H variant is a conservative amino acid substitution, which 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. We interpret R3095H as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765315 SCV000896570 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing

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