ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.5014C>T (p.Leu1672Phe)

gnomAD frequency: 0.00006  dbSNP: rs754238957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763718 SCV002001114 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001763718 SCV002227562 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1644 of the ZNF469 protein (p.Leu1644Phe). This variant is present in population databases (rs754238957, gnomAD 0.004%). 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: 1312712). 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 RCV002334676 SCV002640894 uncertain significance Cardiovascular phenotype 2024-05-12 criteria provided, single submitter clinical testing The p.L1644F variant (also known as c.4930C>T), located in coding exon 2 of the ZNF469 gene, results from a C to T substitution at nucleotide position 4930. The leucine at codon 1644 is replaced by phenylalanine, an amino acid with highly 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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