ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.891C>G (p.Phe297Leu)

gnomAD frequency: 0.00024  dbSNP: rs770483852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996355 SCV001151037 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000996355 SCV001771373 likely benign not provided 2020-06-24 criteria provided, single submitter clinical testing
Invitae RCV000996355 SCV002150292 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 297 of the ZNF469 protein (p.Phe297Leu). This variant is present in population databases (rs770483852, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. 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: 808120). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003160131 SCV003869858 likely benign Inborn genetic diseases 2023-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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