ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)

gnomAD frequency: 0.00002  dbSNP: rs764764326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002245149 SCV002513758 uncertain significance not provided 2022-05-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); 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
Fulgent Genetics, Fulgent Genetics RCV002481051 SCV002791722 uncertain significance Brittle cornea syndrome 1 2022-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002245149 SCV003789638 uncertain significance not provided 2022-03-12 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 3574 of the ZNF469 protein (p.Pro3574Leu). This variant is present in population databases (rs764764326, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably 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 RCV003164348 SCV003857086 uncertain significance Cardiovascular phenotype 2022-12-17 criteria provided, single submitter clinical testing The p.P3574L variant (also known as c.10721C>T), located in coding exon 2 of the ZNF469 gene, results from a C to T substitution at nucleotide position 10721. The proline at codon 3574 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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