ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)

gnomAD frequency: 0.00002  dbSNP: rs775960094
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
Genome-Nilou Lab RCV001563816 SCV001786850 uncertain significance Fanconi anemia complementation group A 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882662 SCV002191039 uncertain significance Fanconi anemia 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 708 of the FANCA protein (p.Thr708Met). This variant is present in population databases (rs775960094, gnomAD 0.01%). This missense change has been observed in individual(s) with Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) (PMID: 29621589). ClinVar contains an entry for this variant (Variation ID: 1199304). 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. 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 RCV001563816 SCV002775615 uncertain significance Fanconi anemia complementation group A 2021-09-14 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.