ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89811347)_(89862446_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004581483 SCV005066810 pathogenic Fanconi anemia 2023-07-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11-36 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant disrupts a region of the FANCA protein in which other variant(s) (p.Thr1131Ala) have been determined to be pathogenic (PMID: 1792455, 1927896, 9371798, 12444097, 15643609, 19367192, 22778927). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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