ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2161G>C (p.Ala721Pro)

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
Ambry Genetics RCV004383751 SCV004869902 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.2161G>C (p.A721P) alteration is located in exon 13 (coding exon 13) of the FANCM gene. This alteration results from a G to C substitution at nucleotide position 2161, causing the alanine (A) at amino acid position 721 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104412 SCV005734877 uncertain significance Fanconi anemia 2025-01-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 721 of the FANCM protein (p.Ala721Pro). This variant is present in population databases (rs563314173, gnomAD 0.0009%). 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: 3092834). 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 tolerated. 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.

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.