ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89811357)_(89815185_?)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 RCV001377603 SCV001574978 pathogenic Fanconi anemia 2022-01-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 33-36 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: 32487094). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant disrupts a region of the FANCA protein in which other variant(s) (p.Arg1117Gly) have been determined to be pathogenic (PMID: 9371798, 10373536, 11739169, 22778927, 24349332). 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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