Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002451895 | SCV002616239 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-16 | criteria provided, single submitter | clinical testing | The c.338delG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 338, causing a translational frameshift with a predicted alternate stop codon (p.G113Vfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Labcorp Genetics |
RCV003099445 | SCV003324178 | pathogenic | Fanconi anemia complementation group O | 2022-03-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly113Valfs*5) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. For these reasons, this variant has been classified as Pathogenic. |