ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)

dbSNP: rs1598067532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823169 SCV000964018 pathogenic Fanconi anemia 2018-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has not been reported in the literature in individuals with FANCA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1174*) in the FANCA gene. It is expected to result in an absent or disrupted protein product.
Molecular Genetics laboratory, Necker Hospital RCV003325309 SCV004031277 pathogenic not provided 2021-12-22 no assertion criteria provided clinical testing

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