ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89809264)_(89834808_?)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 RCV004581534 SCV005066862 pathogenic Fanconi anemia 2023-12-14 criteria provided, single submitter clinical testing This variant results in the deletion of exons 27-36 and part of exon 37 (c.2505-1163_3709del) of the FANCA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant disrupts a region of the FANCA protein in which other variant(s) (p.Trp1174del) have been determined to be pathogenic (PMID: 9371789, 12444097, 17924555, 23613520, 25703136). 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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