ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) (rs146609069)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554625 SCV000626381 uncertain significance Fanconi anemia 2019-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 18 of the FANCM protein (p.Arg18Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs146609069, ExAC 0.05%). This variant has not been reported in the literature in individuals with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 456276). 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: "Benign"; 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.
Fulgent Genetics,Fulgent Genetics RCV000763926 SCV000894870 uncertain significance SPERMATOGENIC FAILURE 28; PREMATURE OVARIAN FAILURE 15 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000989207 SCV001139436 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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.