ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)

gnomAD frequency: 0.00056  dbSNP: rs571622809
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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 RCV001093037 SCV001249829 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001093037 SCV001780248 uncertain significance not provided 2021-01-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002436701 SCV002746215 likely benign Cardiovascular phenotype 2021-08-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV002480459 SCV002778218 uncertain significance Brittle cornea syndrome 1 2022-02-11 criteria provided, single submitter clinical testing
Invitae RCV001093037 SCV003279368 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3745 of the ZNF469 protein (p.Arg3745Gln). This variant is present in population databases (rs571622809, gnomAD 0.1%). 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: 872523). 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 glutamine 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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