ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2172dup (p.Ser725fs)

dbSNP: rs1555547955
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670729 SCV000795622 pathogenic Fanconi anemia complementation group A 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV001855546 SCV002172876 pathogenic Fanconi anemia 2023-06-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 554995). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 11091222). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser725Valfs*69) 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000670729 SCV002807589 pathogenic Fanconi anemia complementation group A 2021-08-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670729 SCV004196618 pathogenic Fanconi anemia complementation group A 2024-02-05 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000670729 SCV001426078 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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