ClinVar Miner

Submissions for variant NM_000135.2:c.1471-490_3627-655del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002254858 SCV002526028 pathogenic Fanconi anemia complementation group A 2022-04-06 criteria provided, single submitter clinical testing The FANCA c.1471-490_3627-655del variant is a gross intragenic deletion encompassing exons 16-36 of the FANCA gene. This results in out-of-frame deletion of exon 16 to exon 36 and is expected to result in a disrupted protein product. A deletion comprising this region is present in gnomAD SVs v2.1 with a maximum subpopulation frequency of 0.021% (https://gnomad.broadinstitute.org/). Similar deletions have been reported in individuals with Fanconi anemia (PMID: 9711872, 28690869, 29098742, 29702541). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). In summary, this variant meets criteria to be classified as pathogenic.

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