ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9919A>G (p.Thr3307Ala) (rs273585627)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520139 SCV000618246 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The T3279A variant has been identified in an individual with isolated keratoconus (Lechner et al., 2014). This variant is observed in 68/56638 (0.1%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The T3279A 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, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Willoughby Group, Queen's University Belfast RCV000114791 SCV000148686 probable-pathogenic Keratoconus 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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