ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.184del (p.Glu63fs)

gnomAD frequency: 0.00001  dbSNP: rs1260966020
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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 RCV001380592 SCV001578705 pathogenic Fanconi anemia 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu63Argfs*2) 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 present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1068905). For these reasons, this variant has been classified as Pathogenic.

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