ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.5114C>T (p.Thr1705Ile) (rs768667107)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768369 SCV000899099 uncertain significance Brittle cornea syndrome 1 2018-07-31 criteria provided, single submitter clinical testing ZNF469 NM_001127464.2 exon 2 p.Thr1677Ile (c.5030C>T): This variant has not been reported in the literature, but it is present in 9/23952 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/16-88498992-C-T). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, the data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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