Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989964 | SCV001140724 | likely pathogenic | Fanconi anemia complementation group O | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001805958 | SCV002051876 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-11 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 6 of the RAD51C gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of RAD51C function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Ambry Genetics | RCV001805958 | SCV002675489 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-10-30 | criteria provided, single submitter | clinical testing | The p.Q285* pathogenic mutation (also known as c.853C>T), located in coding exon 6 of the RAD51C gene, results from a C to T substitution at nucleotide position 853. This changes the amino acid from a glutamine to a stop codon within coding exon 6. 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. |