ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10079G>T (p.Ser3360Ile)

dbSNP: rs929128705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696914 SCV000573960 uncertain significance not provided 2022-10-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001696914 SCV002269572 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 3332 of the ZNF469 protein (p.Ser3332Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ZNF469-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably 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 RCV003302718 SCV003999378 likely benign Cardiovascular phenotype 2023-04-18 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 RCV001696914 SCV005412498 uncertain significance not provided 2024-06-05 criteria provided, single submitter clinical testing BP4

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