ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)

dbSNP: rs755546887
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466964 SCV000547771 pathogenic Fanconi anemia 2025-01-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 951 of the FANCA protein (p.Arg951Trp). This variant is present in population databases (rs755546887, gnomAD 0.009%). This missense change has been observed in individual(s) with Fanconi anemia (PMID: 17924555, 22778927, 24584348, 26799702). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 408196). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt FANCA protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects FANCA function (PMID: 24349332). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000669024 SCV002022303 pathogenic Fanconi anemia complementation group A 2020-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000669024 SCV002784878 likely pathogenic Fanconi anemia complementation group A 2021-07-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669024 SCV004196017 pathogenic Fanconi anemia complementation group A 2024-03-26 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000669024 SCV005016611 likely pathogenic Fanconi anemia complementation group A 2024-03-14 criteria provided, single submitter clinical testing
Counsyl RCV000669024 SCV000793720 likely pathogenic Fanconi anemia complementation group A 2017-08-29 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000669024 SCV001425696 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter, Sue Richards.
GeneReviews RCV000669024 SCV001737415 not provided Fanconi anemia complementation group A no assertion provided literature only Associated with slower hematologic disease progression
Natera, Inc. RCV000466964 SCV002092574 pathogenic Fanconi anemia 2021-02-20 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.