ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.697G>A (p.Val233Met)

dbSNP: rs1388222868
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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 RCV000802923 SCV000942772 uncertain significance Parkinsonian-pyramidal syndrome 2018-07-10 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 233 of the FBXO7 protein (p.Val233Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FBXO7-related disease. 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: "Possibly 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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