ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu)

gnomAD frequency: 0.00028  dbSNP: rs562264117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320869 SCV000399320 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850708 SCV002218220 uncertain significance not provided 2022-09-16 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 1081 of the ZNF469 protein (p.Pro1081Leu). This variant is present in population databases (rs562264117, 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: 320906). 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 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.
Ambry Genetics RCV002323524 SCV002609789 uncertain significance Cardiovascular phenotype 2021-07-01 criteria provided, single submitter clinical testing The p.P1081L variant (also known as c.3242C>T), located in coding exon 2 of the ZNF469 gene, results from a C to T substitution at nucleotide position 3242. The proline at codon 1081 is replaced by leucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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