ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002976172 SCV003288989 uncertain significance Fanconi anemia 2022-05-05 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs771248011, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1866 of the FANCM protein (p.Arg1866Ser).
Ambry Genetics RCV004973790 SCV005586980 uncertain significance Inborn genetic diseases 2024-12-01 criteria provided, single submitter clinical testing The p.R1866S variant (also known as c.5598G>T), located in coding exon 21 of the FANCM gene, results from a G to T substitution at nucleotide position 5598. The arginine at codon 1866 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.