ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1809dup (p.Ile604fs)

dbSNP: rs1343140664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555905 SCV000626152 pathogenic Fanconi anemia 2022-02-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 456084). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile604Tyrfs*9) 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).
Fulgent Genetics, Fulgent Genetics RCV002497048 SCV002809774 likely pathogenic Fanconi anemia complementation group A 2021-08-30 criteria provided, single submitter clinical testing

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