ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89815047)_(89828450_?)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 RCV004581504 SCV005066831 pathogenic Fanconi anemia 2023-12-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 29-33 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: 10094191). This variant is also known as 2779–3348del. This variant disrupts a region of the FANCA protein in which other variant(s) (p.Arg1055Trp) have been determined to be pathogenic (PMID: 9929978, 10094191, 15523645, 19367192). 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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