Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468007 | SCV000550170 | pathogenic | Fanconi anemia complementation group O | 2023-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys176Leufs*27) 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, 29278735). This variant is present in population databases (rs768793789, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with breast cancer, non-Hodgkin lymphoma and ovarian cancer (PMID: 20400964). This variant is also known as c.525_526insC. ClinVar contains an entry for this variant (Variation ID: 409827). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001195019 | SCV001501670 | pathogenic | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339168 | SCV002643835 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-02 | criteria provided, single submitter | clinical testing | The c.525dupC pathogenic mutation, located in coding exon 3 of the RAD51C gene, results from a duplication of C at nucleotide position 525, causing a translational frameshift with a predicted alternate stop codon (p.C176Lfs*27). In a study of 1100 German high-risk breast and/or ovarian cancer families, this alteration was detected in 2 individual(s) (Meindl A et al. Nat Genet, 2010 May;42:410-4). In a study of 10,389 adult cancers, this alteration was identified in a 78 year old individual with lung adenocarcinoma (Huang KL et al. Cell, 2018 04;173:355-370.e14). In addition to the clinical data presented in the literature, 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. |
Fulgent Genetics, |
RCV002489060 | SCV002780235 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 2021-12-15 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV001195019 | SCV004026172 | pathogenic | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | PVS1, PS4, PM2_SUP |
Institute of Human Genetics, |
RCV003493581 | SCV004242493 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-12-04 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS4_MOD,PM2_SUP |
German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV000785233 | SCV000923801 | pathogenic | Neoplasm of ovary | 2018-12-01 | no assertion criteria provided | research | |
Leiden Open Variation Database | RCV001195019 | SCV001365265 | pathogenic | not provided | 2014-11-02 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Johan den Dunnen. |