ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3550G>A (p.Ala1184Thr) (rs553460850)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519332 SCV000621961 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The A1156T variant has been reported in one individual with keratoconus who also harbored a potentially disease-causing variant in the DOCK9 gene (Yu et al., 2017). The A1156T variant is observed in 36/11614 (0.31%) alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016). This substitution occurs at a position that is not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Nevertheless, the A1156T 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.

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