ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala)

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 RCV002304655 SCV002592769 uncertain significance Fanconi anemia 2022-08-09 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1818 of the FANCM protein (p.Thr1818Ala).
Ambry Genetics RCV003308108 SCV003988676 uncertain significance Inborn genetic diseases 2023-06-05 criteria provided, single submitter clinical testing The c.5452A>G (p.T1818A) alteration is located in exon 21 (coding exon 21) of the FANCM gene. This alteration results from a A to G substitution at nucleotide position 5452, causing the threonine (T) at amino acid position 1818 to be replaced by an alanine (A). 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.