ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)

gnomAD frequency: 0.00006  dbSNP: rs761603858
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562480 SCV001785250 uncertain significance not provided 2021-04-08 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001562480 SCV002200528 uncertain significance not provided 2022-08-23 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 2792 of the ZNF469 protein (p.Gly2792Ser). This variant is present in population databases (rs761603858, gnomAD 0.08%). 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: 1198359). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276792 SCV002565422 uncertain significance Ehlers-Danlos syndrome 2021-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440800 SCV002681498 benign Cardiovascular phenotype 2023-12-14 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.
Fulgent Genetics, Fulgent Genetics RCV002488380 SCV002776798 uncertain significance Brittle cornea syndrome 1 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001562480 SCV005193593 uncertain significance not provided criteria provided, single submitter not provided

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