ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)

dbSNP: rs1555547474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499975 SCV000594657 pathogenic Fanconi anemia complementation group A 2016-07-07 criteria provided, single submitter clinical testing
Invitae RCV001380594 SCV001578707 pathogenic Fanconi anemia 2018-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu800*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 435129). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000499975 SCV000796397 likely pathogenic Fanconi anemia complementation group A 2017-12-18 no assertion criteria provided clinical testing
Natera, Inc. RCV001380594 SCV002092609 pathogenic Fanconi anemia 2021-05-14 no assertion criteria provided clinical testing

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