ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile)

gnomAD frequency: 0.00001  dbSNP: rs768667107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768369 SCV000899099 uncertain significance Brittle cornea syndrome 1 2022-02-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature, but it is present in 9/23952 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/16 88498992 C T). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, the data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen RCV001092207 SCV001248611 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001092207 SCV002937057 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1677 of the ZNF469 protein (p.Thr1677Ile). This variant is present in population databases (rs768667107, gnomAD 0.04%). 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: 626208). 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 isoleucine 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.

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