ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)

dbSNP: rs1057516430
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
Counsyl RCV000409455 SCV000485660 pathogenic Fanconi anemia complementation group A 2016-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865263 SCV002159720 pathogenic Fanconi anemia 2022-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370361). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 15522956). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln99*) 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).
GeneDx RCV003126717 SCV003803212 pathogenic not provided 2022-08-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 31589614, Sipe_2022, 31543367, 33718801, 15522956)
Leiden Open Variation Database RCV000409455 SCV001425762 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Sue Richards.

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.