ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)

dbSNP: rs986710868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674049 SCV000799322 likely pathogenic Fanconi anemia complementation group A 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV002532156 SCV003443649 pathogenic Fanconi anemia 2022-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1295*) 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 premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 23613520). ClinVar contains an entry for this variant (Variation ID: 557856). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000674049 SCV001426120 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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