ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10888C>T (p.Arg3630Cys) (rs200668806)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765316 SCV000896572 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000485415 SCV000570962 uncertain significance not specified 2017-09-26 criteria provided, single submitter clinical testing The R3602C variant in the ZNF469 gene has been reported previously in a group of 112 unrelated European patients with keratoconus (Lechner et al., 2014). The R3602C variant is also observed in 16/5242 alleles (0.31%) from individuals of non-Finnish European background in the ExAC dataset, and 3/1006 alleles (0.30%) in the 1000 Genomes Project, although no homozygous individuals were observed in either group (Lek et al., 2016; 1000 Genomes Consortium et al., 2015). The R3602C 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 across species, 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 R3602C as a variant of uncertain significance.

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