Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000471690 | SCV000548069 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys722Argfs*14) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32868316, 35220195). This variant is also known as c.2157delA, c.2157del. ClinVar contains an entry for this variant (Variation ID: 408407). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000471690 | SCV001175397 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | The c.2165delA variant, located in coding exon 13 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 2165, causing a translational frameshift with a predicted alternate stop codon (p.K722Rfs*14). 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. |