Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569212 | SCV000663616 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-21 | criteria provided, single submitter | clinical testing | The c.2801dupA pathogenic mutation, located in coding exon 17 of the RAD50 gene, results from a duplication of A at nucleotide position 2801, causing a translational frameshift with a predicted alternate stop codon (p.N934Kfs*10). 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. |
Invitae | RCV000569212 | SCV000753373 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-29 | 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: 480396). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. 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 sequence change creates a premature translational stop signal (p.Asn934Lysfs*10) 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). |
Baylor Genetics | RCV003470838 | SCV004209723 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2021-12-16 | criteria provided, single submitter | clinical testing |