ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7645G>A (p.Val2549Ile)

gnomAD frequency: 0.00005  dbSNP: rs759325304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996368 SCV001151053 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000996368 SCV001784790 uncertain significance not provided 2020-08-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a 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
Invitae RCV000996368 SCV003494676 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2521 of the ZNF469 protein (p.Val2521Ile). This variant is present in population databases (rs759325304, gnomAD 0.007%). 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: 808130). 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 isoleucine 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.

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