ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)

gnomAD frequency: 0.00003  dbSNP: rs745468033
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696926 SCV000620819 uncertain significance not provided 2021-06-09 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 (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV002497030 SCV002812658 uncertain significance Brittle cornea syndrome 1 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403241 SCV004105434 uncertain significance ZNF469-related disorder 2023-04-20 criteria provided, single submitter clinical testing The ZNF469 c.8515G>A variant is predicted to result in the amino acid substitution p.Gly2839Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0081% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-88502477-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001696926 SCV004270969 uncertain significance not provided 2024-01-22 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 2839 of the ZNF469 protein (p.Gly2839Ser). This variant is present in population databases (rs745468033, gnomAD 0.008%). 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: 452045). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004023608 SCV004984314 uncertain significance Cardiovascular phenotype 2023-12-17 criteria provided, single submitter clinical testing The c.8515G>A (p.G2839S) alteration is located in exon 2 (coding exon 2) of the ZNF469 gene. This alteration results from a G to A substitution at nucleotide position 8515, causing the glycine (G) at amino acid position 2839 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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