ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89818526)_(89851392_?)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 RCV004581490 SCV005066817 pathogenic Fanconi anemia 2023-05-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-31 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. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FANCA protein in which other variant(s) (p.Glu936Gly) have been determined to be pathogenic (PMID: 15643609, 17924555). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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