ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.9850G>A (p.Gly3284Arg)

gnomAD frequency: 0.00019  dbSNP: rs773064083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704608 SCV000568251 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25097247)
Labcorp Genetics (formerly Invitae), Labcorp RCV001704608 SCV003442366 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3256 of the ZNF469 protein (p.Gly3256Arg). This variant is present in population databases (rs773064083, gnomAD 0.05%). This missense change has been observed in individual(s) with keratoconus (PMID: 25097247). ClinVar contains an entry for this variant (Variation ID: 419987). 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 arginine 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 RCV003338606 SCV004058504 likely benign Cardiovascular phenotype 2023-07-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001704608 SCV005412497 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing BP4

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