ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)

dbSNP: rs1555518955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626757 SCV000747460 uncertain significance Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001270167 SCV001370187 uncertain significance Brittle cornea syndrome 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2.
Ambry Genetics RCV002457966 SCV002738874 uncertain significance Cardiovascular phenotype 2022-03-09 criteria provided, single submitter clinical testing The p.N857D variant (also known as c.2569A>G), located in coding exon 1 of the ZNF469 gene, results from an A to G substitution at nucleotide position 2569. The asparagine at codon 857 is replaced by aspartic acid, 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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