ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)

gnomAD frequency: 0.00008  dbSNP: rs886052412
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339950 SCV000399412 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001582960 SCV001817987 uncertain significance not provided 2024-03-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV001582960 SCV002063534 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001582960 SCV002307470 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2768 of the ZNF469 protein (p.Pro2768Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 320987). 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: "Benign"; 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.
Ambry Genetics RCV002429276 SCV002679309 uncertain significance Cardiovascular phenotype 2022-11-02 criteria provided, single submitter clinical testing The p.P2768R variant (also known as c.8303C>G), located in coding exon 2 of the ZNF469 gene, results from a C to G substitution at nucleotide position 8303. The proline at codon 2768 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not 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.

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