ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5258A>G (p.His1753Arg)

gnomAD frequency: 0.00001  dbSNP: rs371891604
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 RCV001987121 SCV002209680 uncertain significance Fanconi anemia 2021-02-24 criteria provided, single submitter clinical testing 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 arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is present in population databases (rs371891604, ExAC 0.01%). This sequence change replaces histidine with arginine at codon 1753 of the FANCM protein (p.His1753Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. 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.
Ambry Genetics RCV002562082 SCV003564625 uncertain significance Inborn genetic diseases 2021-07-27 criteria provided, single submitter clinical testing The c.5258A>G (p.H1753R) alteration is located in exon 20 (coding exon 20) of the FANCM gene. This alteration results from a A to G substitution at nucleotide position 5258, causing the histidine (H) at amino acid position 1753 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration 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.