ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)

dbSNP: rs995995791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987754 SCV001137196 likely pathogenic Mitochondrial DNA depletion syndrome 13 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549686 SCV003303760 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FBXL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 558 of the FBXL4 protein (p.Cys558Tyr). ClinVar contains an entry for this variant (Variation ID: 802252). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FBXL4 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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