ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr)

gnomAD frequency: 0.00004  dbSNP: rs767619000
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 RCV000797993 SCV000937585 uncertain significance Fanconi anemia 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1706 of the FANCM protein (p.Asn1706Thr). This variant is present in population databases (rs767619000, gnomAD 0.006%). 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: 644140). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001662823 SCV001874082 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed with FANCM p.(S1276L) in an adult with head and neck squamous cell carcinoma (PMID: 28678401); This variant is associated with the following publications: (PMID: 28678401)
Fulgent Genetics, Fulgent Genetics RCV002477822 SCV002785061 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-11-29 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.