Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996377 | SCV001151063 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002382231 | SCV002693729 | uncertain significance | Cardiovascular phenotype | 2022-07-21 | criteria provided, single submitter | clinical testing | The p.R3423H variant (also known as c.10268G>A), located in coding exon 2 of the ZNF469 gene, results from a G to A substitution at nucleotide position 10268. The arginine at codon 3423 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available 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. |
Invitae | RCV000996377 | SCV003503767 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3423 of the ZNF469 protein (p.Arg3423His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. ClinVar contains an entry for this variant (Variation ID: 808136). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |