ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs)

dbSNP: rs2143525701
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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 RCV002004592 SCV002233016 pathogenic Fanconi anemia 2022-04-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr448Cysfs*36) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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