ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)

dbSNP: rs794726660
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003617 SCV000798357 pathogenic Fanconi anemia complementation group A 2018-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851619 SCV002189027 pathogenic Fanconi anemia 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1240Aspfs*36) in the FANCA gene. RNA analysis indicates that this premature translational stop signal induces altered splicing and may result in an absent or disrupted protein product. 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: 15523645, 23067021). ClinVar contains an entry for this variant (Variation ID: 3448). Studies have shown that this premature translational stop signal results in skipping of exon 37 and introduces a premature termination codon (PMID: 15523645). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000003617 SCV004196563 pathogenic Fanconi anemia complementation group A 2023-03-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001851619 SCV005185666 pathogenic Fanconi anemia 2024-05-16 criteria provided, single submitter clinical testing Variant summary: FANCA c.3720_3724delAAACA (p.Glu1240AspfsX36) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251474 control chromosomes (gnomAD). c.3720_3724delAAACA has been reported in the literature in individuals affected with Fanconi Anemia (e.g. Mori_2019). The following publication has been ascertained in the context of this evaluation (PMID: 30792206). ClinVar contains an entry for this variant (Variation ID: 3448). Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000003617 SCV000023775 pathogenic Fanconi anemia complementation group A 2004-12-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000003617 SCV001425860 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Myungshin Kim.

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