ClinVar Miner

Submissions for variant NC_000017.11:g.(?_58703186)_(58734232_?)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 RCV000815272 SCV000955721 pathogenic Fanconi anemia complementation group O 2015-08-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This sequence change is a gross deletion of the genomic region encompassing exons 4 to 9 of the RAD51C gene causing a frameshift at codon 191, This creates a premature translational stop signal (p.Glu191Alafs*1). This deletion extends into the introns and the breakpoints have not been determined by this assay.

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