ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.142C>G (p.Leu48Val)

gnomAD frequency: 0.00018  dbSNP: rs148516173
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 RCV000542534 SCV000626340 uncertain significance Fanconi anemia 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 48 of the FANCL protein (p.Leu48Val). This variant is present in population databases (rs148516173, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 456242). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCL 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.
Fulgent Genetics, Fulgent Genetics RCV002483357 SCV002783030 uncertain significance Fanconi anemia complementation group L 2021-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752936 SCV005360362 uncertain significance FANCL-related disorder 2024-07-22 no assertion criteria provided clinical testing The FANCL c.142C>G variant is predicted to result in the amino acid substitution p.Leu48Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.072% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.