ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8111A>C (p.Glu2704Ala)

gnomAD frequency: 0.00001  dbSNP: rs930146121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996370 SCV001151055 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416278 SCV002680017 uncertain significance Cardiovascular phenotype 2022-10-03 criteria provided, single submitter clinical testing The p.E2676A variant (also known as c.8027A>C), located in coding exon 2 of the ZNF469 gene, results from an A to C substitution at nucleotide position 8027. The glutamic acid at codon 2676 is replaced by alanine, an amino acid with dissimilar 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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