Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562607 | SCV000663606 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | The p.W1017* pathogenic mutation (also known as c.3050G>A), located in coding exon 20 of the RAD50 gene, results from a G to A substitution at nucleotide position 3050. This changes the amino acid from a tryptophan to a stop codon within coding exon 20. 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. |
Ce |
RCV001091585 | SCV001247717 | pathogenic | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000562607 | SCV001396853 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1017*) 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: 480391). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003470837 | SCV004209744 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2021-05-18 | criteria provided, single submitter | clinical testing | |
CZECANCA consortium | RCV001271002 | SCV001451814 | pathogenic | Breast and/or ovarian cancer | 2019-06-11 | no assertion criteria provided | clinical testing |