ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.1100A>G (p.Asn367Ser)

gnomAD frequency: 0.00011  dbSNP: rs764006085
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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 RCV002034282 SCV002317485 uncertain significance Parkinsonian-pyramidal syndrome 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 367 of the FBXO7 protein (p.Asn367Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs764006085, ExAC 0.02%). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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