ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)

dbSNP: rs281165933
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565935 SCV001789383 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24895405, 29228253)
Genetic Services Laboratory, University of Chicago RCV001815038 SCV002061953 uncertain significance not specified 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001565935 SCV002176608 uncertain significance not provided 2022-09-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3372 of the ZNF469 protein (p.Pro3372Leu). This variant is present in population databases (rs281165933, 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: 1200803). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The leucine 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243305 SCV002512354 uncertain significance Brittle cornea syndrome 1 2022-02-01 criteria provided, single submitter clinical testing ACMG classification criteria: BP4
Ambry Genetics RCV002324142 SCV002610266 benign Cardiovascular phenotype 2024-03-01 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.

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