ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9833C>A (p.Thr3278Asn) (rs571738263)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484661 SCV000573718 uncertain significance not specified 2017-02-27 criteria provided, single submitter clinical testing The T3250N variant of uncertain significance in the ZNF469 gene has not been published as pathogenic or been reported as benign to our knowledge. The 1000 Genomes Project identified the T3250N variant with a frequency of 0.3%, 3/1008 alleles, in individuals of East Asian ancestry, while data from control individuals in the NHLBI Exome Sequencing Project and the Exome Aggregation Consortium was not sufficient to assess the frequency of T3250N (1000 Genomes Consortium et al., 2015; Lek et al., 2016; Exome Variant Server). The T3250N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Moreover, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function.

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