ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) (rs773159223)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409456 SCV000487303 pathogenic Fanconi anemia, complementation group A 2016-11-10 criteria provided, single submitter clinical testing
Invitae RCV001245476 SCV001418767 pathogenic Fanconi anemia 2019-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg52*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773159223, ExAC 0.01%). This variant has been observed in individuals affected with Fanconi anemia (PMID: 28973083, 10094191). ClinVar contains an entry for this variant (Variation ID: 371668). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.

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