ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2786del (p.Tyr929fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040068 SCV001203623 pathogenic Fanconi anemia 2019-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr929Serfs*60) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779480428, ExAC 0.001%). This variant has not been reported in the literature in individuals with FANCA-related conditions. 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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