ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)

gnomAD frequency: 0.00001  dbSNP: rs758619078
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216473 SCV001388272 uncertain significance Fanconi anemia 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 87 of the FANCA protein (p.Ala87Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 945755). 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 FANCA protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480713 SCV002774559 uncertain significance not provided 2021-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497738 SCV002813364 uncertain significance Fanconi anemia complementation group A 2021-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001216473 SCV002090783 uncertain significance Fanconi anemia 2020-02-26 no assertion criteria provided 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.