ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3349-1G>A

gnomAD frequency: 0.00004  dbSNP: rs769862233
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761273 SCV000891232 likely pathogenic Fanconi anemia complementation group A 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV001043409 SCV001207154 pathogenic Fanconi anemia 2023-03-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 623165). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 34, but is expected to preserve the integrity of the reading-frame (PMID: 24989076). This variant is also known as c.3348-1G>A. Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 24989076, 29098742). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs769862233, gnomAD 0.07%). This sequence change affects an acceptor splice site in intron 33 of the FANCA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.
Baylor Genetics RCV000761273 SCV004196116 pathogenic Fanconi anemia complementation group A 2023-05-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000761273 SCV001462881 pathogenic Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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