ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1626+967_2015-679del

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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 RCV003444457 SCV004171529 pathogenic Fanconi anemia complementation group A 2023-11-01 criteria provided, single submitter clinical testing The FANCA c.1626+967_2015-679del variant is a gross deletion of the genomic region encompassing exons 18-22 of the FANCA gene. The 5’ end is likely confined to intron 17. The 3’ end of this event is likely confined to intron 22. This deletion is predicted to cause a frameshift and premature protein truncation. Deletions involving exons 18-22 FANCA have been reported in the literature in individuals with Fanconi anemia (PMID: 15643609, 17924555, 19367192, 21273304, 28717661, 29098742, 34585473). 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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