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: 6
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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
Labcorp Genetics (formerly Invitae), Labcorp 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.
Baylor Genetics RCV000409456 SCV005057535 pathogenic Fanconi anemia complementation group A 2024-03-24 criteria provided, single submitter clinical testing
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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital RCV001245476 SCV004814120 pathogenic Fanconi anemia no assertion criteria provided research FANCA (P.R52*) is a nonsense mutation that is predicted to produce truncated expressed proteins with loss of their normal function; it has been reported in the literature [PMID:28973083,10094191] that this variant has been detected in patients with Fanconi anaemia; it is not included in the ESP6500, 1000genomics databases, and is available in the dbSNP and Goldfields reference population databases (rs773159223, 000002), and ClinVar database as Pathogenic. in summary, this variant is classified as pathogenic according to the ACMG guidelines.

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