ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg)

dbSNP: rs1597208940
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Total submissions: 2
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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 RCV002210912 SCV002496045 uncertain significance Brittle cornea syndrome 1 2021-07-12 criteria provided, single submitter clinical testing ZNF469 NM_001367624.1 exon 3 p.Gln1204Arg (c.3611A>G):This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002454587 SCV002616039 uncertain significance Cardiovascular phenotype 2022-02-04 criteria provided, single submitter clinical testing The p.Q1176R variant (also known as c.3527A>G), located in coding exon 2 of the ZNF469 gene, results from an A to G substitution at nucleotide position 3527. The glutamine at codon 1176 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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