ClinVar Miner

Submissions for variant NC_000017.10:g.(?_56809825)_(56809925_?)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 RCV004581318 SCV005065412 pathogenic Fanconi anemia complementation group O 2024-01-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the RAD51C gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant disrupts the nuclear localization signal (NLS) of the RAD51C protein, which is important for proper localization and function of the RAD51C protein (PMID:12966089). While functional studies have not been performed to directly test the effect of this variant on RAD51C protein function, this suggests that disruption of this region of the protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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