Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570382 | SCV000671777 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-05-24 | criteria provided, single submitter | clinical testing | The c.1002_1005delAGAA pathogenic mutation, located in coding exon 7 of the RAD50 gene, results from a deletion of 4 nucleotides between nucleotide positions 1002 and 1005, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV000570382 | SCV000828941 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-05-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys334Asnfs*36) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 484646). For these reasons, this variant has been classified as Pathogenic. |