ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)

gnomAD frequency: 0.00002  dbSNP: rs1208219883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878751 SCV002130697 uncertain significance not provided 2023-11-27 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 3079 of the ZNF469 protein (p.Pro3079Leu). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1370950). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". 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 RCV002370414 SCV002686800 uncertain significance Cardiovascular phenotype 2020-10-23 criteria provided, single submitter clinical testing The p.P3079L variant (also known as c.9236C>T), located in coding exon 2 of the ZNF469 gene, results from a C to T substitution at nucleotide position 9236. The proline at codon 3079 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.
Fulgent Genetics, Fulgent Genetics RCV002482576 SCV002789968 uncertain significance Brittle cornea syndrome 1 2021-07-01 criteria provided, single submitter clinical testing

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