ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.5332C>A (p.Pro1778Thr)

gnomAD frequency: 0.00005  dbSNP: rs528985816
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200604 SCV001371610 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001200604 SCV001821103 uncertain significance not provided 2021-02-04 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
Invitae RCV001200604 SCV002189879 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1750 of the ZNF469 protein (p.Pro1750Thr). This variant is present in population databases (rs528985816, 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: 932682). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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 RCV002339496 SCV002642496 likely benign Cardiovascular phenotype 2022-01-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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