ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn)

gnomAD frequency: 0.00001  dbSNP: rs1060501893
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000471894 SCV000547797 uncertain significance Fanconi anemia 2022-03-27 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 408219). 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 lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1946 of the FANCM protein (p.Lys1946Asn).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237864 SCV002011466 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975521 SCV005582893 uncertain significance Inborn genetic diseases 2024-11-22 criteria provided, single submitter clinical testing The p.K1946N variant (also known as c.5838G>C), located in coding exon 22 of the FANCM gene, results from a G to C substitution at nucleotide position 5838. The lysine at codon 1946 is replaced by asparagine, an amino acid with similar 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.