ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89828347)_(89842233_?)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 RCV001972561 SCV002244257 pathogenic Fanconi anemia 2021-09-15 criteria provided, single submitter clinical testing 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.Gln869Pro) have been determined to be pathogenic (PMID: 15643609, 17924555, 29098742; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with fanconi anemia (PMID: 21273304). This variant is a gross deletion of the genomic region encompassing exon(s) 21-29 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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