ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu)

dbSNP: rs61730784
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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 RCV001225456 SCV001397737 uncertain significance Parkinsonian-pyramidal syndrome 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 155 of the FBXO7 protein (p.Ala155Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid 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.

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