ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2717del (p.Ala906fs)

dbSNP: rs2143288542
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957284 SCV002200351 pathogenic Fanconi anemia 2021-05-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FANCA-related conditions. This sequence change creates a premature translational stop signal (p.Ala906Valfs*15) 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).

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