ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile)

gnomAD frequency: 0.00001  dbSNP: rs1233525301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203007 SCV001374149 uncertain significance Parkinsonian-pyramidal syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 11 of the FBXO7 protein (p.Thr11Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine 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 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: "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.

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