ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.1663G>A (p.Asp555Asn) (rs749179728)

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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 RCV000328233 SCV000399277 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000418901 SCV000535587 uncertain significance not specified 2017-01-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The D555N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D555N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Aspartic acid are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, although D555N was not observed in approximately 1,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project (average read depth 3X), it was observed in 2/422 (0.47%) alleles from individuals of East Asian ancestry in the Exome Aggregation Consortium (ExAC).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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