ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)

dbSNP: rs1555545421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668571 SCV000793196 likely pathogenic Fanconi anemia complementation group A 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001855502 SCV002235644 pathogenic Fanconi anemia 2022-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu922Metfs*4) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553176). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV000668571 SCV004196611 likely pathogenic Fanconi anemia complementation group A 2022-10-21 criteria provided, single submitter clinical testing

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