ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89845199)_(89871810_?)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 RCV001953589 SCV002242940 pathogenic Fanconi anemia 2022-05-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7-20 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 10521298, 23898106). This variant disrupts a region of the FANCA protein in which other variant(s) (exon 16-17 deletion) have been determined to be pathogenic (PMID: 9711872, 21273304, 23613520, 29098742). 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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