ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3813dup (p.His1272fs)

gnomAD frequency: 0.00001  dbSNP: rs1555534521
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672788 SCV000797930 pathogenic Fanconi anemia complementation group A 2018-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855583 SCV002162805 pathogenic Fanconi anemia 2023-08-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 556740). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with fanconi anemia (PMID: 15643609, 29098742). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His1272Thrfs*6) 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 RCV000672788 SCV002809825 pathogenic Fanconi anemia complementation group A 2021-09-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672788 SCV004196605 pathogenic Fanconi anemia complementation group A 2024-03-20 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000672788 SCV001425998 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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