ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) (rs148100796)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474583 SCV000547763 pathogenic Fanconi anemia 2018-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu288*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs148100796, ExAC 0.006%). This variant has been reported in the literature in several individuals affected with Fanconi anemia in both the compound heterozygous and homozygous state (PMID: 10521298, 22778927, 12697994). ClinVar contains an entry for this variant (Variation ID: 134239). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
ITMI RCV000120912 SCV000085080 not provided not specified 2013-09-19 no assertion provided reference population
Counsyl RCV000665641 SCV000789794 pathogenic Fanconi anemia, complementation group A 2017-02-21 no assertion criteria provided clinical testing

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