ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)

gnomAD frequency: 0.00002  dbSNP: rs773159223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409456 SCV000487303 pathogenic Fanconi anemia complementation group A 2016-11-10 criteria provided, single submitter clinical testing
Invitae RCV001245476 SCV001418767 pathogenic Fanconi anemia 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg52*) 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 present in population databases (rs773159223, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 10094191, 28973083). ClinVar contains an entry for this variant (Variation ID: 371668). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000409456 SCV001426018 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV001245476 SCV002090792 pathogenic Fanconi anemia 2021-06-04 no assertion criteria provided clinical testing

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