ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226717 SCV003922833 likely pathogenic Brittle cornea syndrome 1 2023-03-08 criteria provided, single submitter clinical testing Variant summary: ZNF469 c.7874_7877dupGCCA (p.His2626GlnfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein. Truncations downstream of this position have been classified as pathogenic by our laboratory and in ClinVar. The variant was absent in 153610 control chromosomes (gnomAD). To our knowledge, no occurrence of c.7874_7877dupGCCA in individuals affected with Brittle Cornea Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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