ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10294C>T (p.Gln3432Ter) (rs1085307609)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489310 SCV000576838 uncertain significance not specified 2017-04-18 criteria provided, single submitter clinical testing The Q3404X variant has not been published as pathogenic or been reported as benign to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q3404X variant is predicted to result in protein truncation with the loss of the last 523 amino acids. Other nonsense variants in the ZNF469 gene have been reported in Human Gene Mutation Database in association with brittle cornea syndrome, however, none are near or downstream from this variant (Stenson et al., 2014). In the absence of functional studies, the physiological consequence of this variant cannot be precisely determined. In addition, this variant lacks observation in a significant number of affected individuals and segregation data, which would further clarify pathogenicity.

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