ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)

dbSNP: rs1283284704
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667760 SCV000792261 pathogenic Fanconi anemia complementation group A 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV001065334 SCV001230290 pathogenic Fanconi anemia 2023-07-25 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with Fanconi anemia (PMID: 24584348, 26740942, 29098742). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asp944Glyfs*5) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). ClinVar contains an entry for this variant (Variation ID: 552489). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV001816670 SCV002072102 pathogenic not provided 2017-07-28 criteria provided, single submitter clinical testing This sequence change results in an amino acid frameshift and creates a premature stop codon 4 amino acids downstream of the mutation, p.Asp944Glyfs*5. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated FANCA protein with potentially abnormal function. This pathogenic sequence change has previously been described in patients with Fanconi anemia (Morgan NV, et al., 1999; Savino M et al., 1997; De Rocco D et al., 2014; Nicchia E, et al., 2015).
Fulgent Genetics, Fulgent Genetics RCV000667760 SCV002793003 pathogenic Fanconi anemia complementation group A 2022-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667760 SCV004196047 pathogenic Fanconi anemia complementation group A 2023-08-29 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000667760 SCV001425693 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter, Sue Richards.
Natera, Inc. RCV000667760 SCV001452858 pathogenic Fanconi anemia complementation group A 2020-09-16 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.