ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)

gnomAD frequency: 0.00001  dbSNP: rs957402222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330319 SCV001521964 uncertain significance Brittle cornea syndrome 1 2020-02-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001815034 SCV002061955 uncertain significance not specified 2017-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418987 SCV002718317 uncertain significance Cardiovascular phenotype 2021-11-02 criteria provided, single submitter clinical testing The p.P3576L variant (also known as c.10727C>T), located in coding exon 2 of the ZNF469 gene, results from a C to T substitution at nucleotide position 10727. The proline at codon 3576 is replaced by leucine, an amino acid with 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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