ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)

gnomAD frequency: 0.00004  dbSNP: rs765069829
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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 RCV001885374 SCV002180332 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1083 of the ZNF469 protein (p.Phe1083Ser). This variant is present in population databases (rs765069829, gnomAD 0.009%). 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: 1339823). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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 RCV003163975 SCV003912724 uncertain significance Cardiovascular phenotype 2022-11-21 criteria provided, single submitter clinical testing The p.F1083S variant (also known as c.3248T>C), located in coding exon 2 of the ZNF469 gene, results from a T to C substitution at nucleotide position 3248. The phenylalanine at codon 1083 is replaced by serine, an amino acid with highly dissimilar 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.
GenomeConnect, ClinGen RCV001825206 SCV002074918 not provided Brittle cornea syndrome 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-26-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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