ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val)

gnomAD frequency: 0.00021  dbSNP: rs573931575
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092209 SCV001248613 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002355109 SCV002648325 benign Cardiovascular phenotype 2024-02-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001092209 SCV003257553 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1944 of the ZNF469 protein (p.Gly1944Val). This variant is present in population databases (rs573931575, gnomAD 0.03%). 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: 871979). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV001092209 SCV004014201 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004751880 SCV005361015 uncertain significance ZNF469-related disorder 2024-08-14 no assertion criteria provided clinical testing The ZNF469 c.5831G>T variant is predicted to result in the amino acid substitution p.Gly1944Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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