ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.4731G>C (p.Arg1577Ser)

dbSNP: rs1906243073
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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 RCV001171780 SCV001334634 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339424 SCV002635310 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.R1549S variant (also known as c.4647G>C), located in coding exon 2 of the ZNF469 gene, results from a G to C substitution at nucleotide position 4647. The arginine at codon 1549 is replaced by serine, 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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