ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val)

gnomAD frequency: 0.00014  dbSNP: rs141068487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808574 SCV000948686 uncertain significance Parkinsonian-pyramidal syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 357 of the FBXO7 protein (p.Ala357Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs141068487, ExAC 0.01%). This missense change has been observed in individual(s) with Parkinson's disease (PMID: 27294386). 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 C55"). 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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