ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr)

gnomAD frequency: 0.00006  dbSNP: rs545662898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337025 SCV000399349 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328844 SCV002636757 uncertain significance Cardiovascular phenotype 2019-06-11 criteria provided, single submitter clinical testing The p.S1497T variant (also known as c.4490G>C), located in coding exon 2 of the ZNF469 gene, results from a G to C substitution at nucleotide position 4490. The serine at codon 1497 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. 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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