ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile)

gnomAD frequency: 0.00004  dbSNP: rs149552421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812038 SCV000952337 uncertain significance Parkinsonian-pyramidal syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 462 of the FBXO7 protein (p.Ser462Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs149552421, ExAC 0.007%). This variant has not been reported in the literature in individuals affected with FBXO7-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: "Benign"; 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.
GeneDx RCV001766700 SCV001998185 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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