ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly)

gnomAD frequency: 0.00001  dbSNP: rs1405769485
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
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030551 SCV001193595 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001862437 SCV002207999 uncertain significance Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1598 of the FANCM protein (p.Asp1598Gly). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 830261). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004973243 SCV005587005 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The p.D1598G variant (also known as c.4793A>G), located in coding exon 20 of the FANCM gene, results from an A to G substitution at nucleotide position 4793. The aspartic acid at codon 1598 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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.