Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457701 | SCV000547984 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 408356). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu980*) 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). |
Ambry Genetics | RCV000457701 | SCV000667032 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-04-28 | criteria provided, single submitter | clinical testing | The c.2938_2942delCTTAA pathogenic mutation (also known as p.L980*), located in coding exon 19 of the RAD50 gene, results from a deletion of 5 nucleotides at nucleotide positions 2938 to 2942. This changes the amino acid from a leucine to a stop codon within coding exon 19. 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. |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003388583 | SCV004100546 | pathogenic | Nijmegen breakage syndrome-like disorder | criteria provided, single submitter | clinical testing | The frameshift deletion p.L980*fs in RAD50 (NM_005732.4) has been reported previously in affected individuals (Waltes R et al). It has been submitted to ClinVar as Pathogenic.The p.L980*fs variant is observed in 1/1,13,054 (0.0009%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. |