ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser)

gnomAD frequency: 0.00012  dbSNP: rs548646578
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226879 SCV002505772 uncertain significance Brittle cornea syndrome 1 2021-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382480 SCV002689685 uncertain significance Cardiovascular phenotype 2022-12-04 criteria provided, single submitter clinical testing The p.G3424S variant (also known as c.10270G>A), located in coding exon 2 of the ZNF469 gene, results from a G to A substitution at nucleotide position 10270. The glycine at codon 3424 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101292 SCV003490364 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3424 of the ZNF469 protein (p.Gly3424Ser). This variant is present in population databases (rs548646578, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of ZNF469-related conditions (PMID: 28622062). ClinVar contains an entry for this variant (Variation ID: 1679282). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV003101292 SCV004184602 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing ZNF469: PM2, BP4

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