ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.8788G>T (p.Asp2930Tyr) (rs76792613)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482049 SCV000568250 uncertain significance not specified 2017-07-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The D2902Y variant has been previouslyreported in a heterozygous individual diagnosed with brittle corneal syndrome-1 (BSC1) who underwent successfulcorneal transplant (Gonzalez-Garay et al., 2013). This variant was also reported in at least one individual from acohort of 112 European patients with isolated keratoconus (Lechner et al., 2014). However, in both studies, a secondvariant in the ZNF469 gene was not identified and/or described for these patients to confirm the biallelic inheritance ofvariants in the ZNF469 gene. Additionally, while D2902Y was not observed in approximately 2,300 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project (average read depth 7x), it wasobserved in 3/1006 (0.3%) alleles from individuals of European background in the 1000 Genomes Project, and in5/5218 (0.1%) alleles from individuals of Non-Finnish European background in the Exome Aggregation Consortium.Furthermore, 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. Nevertheless, D2902Y is a non-conservative aminoacid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, sizeand/or other properties.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727029 SCV000705039 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765314 SCV000896569 uncertain significance Brittle cornea syndrome 1 2018-10-31 criteria provided, single submitter clinical testing

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