ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1658_1660del (p.Gly553del)

dbSNP: rs866897480
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 RCV001049348 SCV001213394 uncertain significance Fanconi anemia 2020-04-24 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1658_1660del, results in the deletion of 1 amino acid(s) of the FANCM protein (p.Gly553del), but otherwise preserves the integrity of the reading frame.
Genetic Services Laboratory, University of Chicago RCV001819764 SCV002064769 uncertain significance not specified 2020-09-10 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCM gene demonstrated a 3 base pair deletion in exon 10, c.1658_1660del. This in-frame deletion is predicted to result in the deletion of a single amino acid residue, p.Gly553del. This sequence change does not appear to have been previously described in patients with FANCM-related disorders and has also not been described in the large population databases such as ExAC and gnomAD. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Fulgent Genetics, Fulgent Genetics RCV002479304 SCV002789122 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-11-16 criteria provided, single submitter clinical testing

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.