ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys)

gnomAD frequency: 0.00004  dbSNP: rs540443650
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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 RCV000292404 SCV000399405 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311084 SCV001501125 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001311084 SCV002027737 uncertain significance not provided 2024-08-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001311084 SCV003516208 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2666 of the ZNF469 protein (p.Arg2666Cys). This variant is present in population databases (rs540443650, gnomAD 0.02%). 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: 320981). 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 RCV004021682 SCV004984310 uncertain significance Cardiovascular phenotype 2023-12-27 criteria provided, single submitter clinical testing The c.7996C>T (p.R2666C) alteration is located in exon 2 (coding exon 2) of the ZNF469 gene. This alteration results from a C to T substitution at nucleotide position 7996, causing the arginine (R) at amino acid position 2666 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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