ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)

dbSNP: rs2038398856
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263707 SCV001441799 likely pathogenic Fanconi anemia complementation group A 2019-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001263707 SCV002788830 likely pathogenic Fanconi anemia complementation group A 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003635956 SCV004552980 pathogenic Fanconi anemia 2023-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1167*) 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. ClinVar contains an entry for this variant (Variation ID: 983704). For these reasons, this variant has been classified as Pathogenic.

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