ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9676C>A (p.His3226Asn) (rs867530230)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000308943 SCV000399434 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000489783 SCV000576573 uncertain significance not specified 2017-04-27 criteria provided, single submitter clinical testing The H3198N variant has not beenpublished as pathogenic or been reported as benign to our knowledge. The H3198N variant is a semi-conservativeamino acid substitution, which may impact secondary protein structure as these residues differ in some properties.However, this substitution occurs at a position that is not conserved across species, and in silico analysis predictsthis variant likely does not alter the protein structure/function. Finally, no sufficient data from control individuals inthe ExAC dataset or the NHLBI Exome Sequencing Project were available to assess whether H3198N may be acommon benign variant in the general population (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; ExomeVariant Server).

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