Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985807 | SCV001134361 | pathogenic | not provided | 2019-06-11 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. |
| Ambry Genetics | RCV001019302 | SCV001180638 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-29 | criteria provided, single submitter | clinical testing | The c.321delT pathogenic mutation, located in coding exon 2 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 321, causing a translational frameshift with a predicted alternate stop codon (p.G108Efs*66). This variant has been reported in a male with Muir-Torre syndrome, having been diagnosed with colorectal cancer at age 50 and two sebaceous carcinomas at age 60. His family history met Amsterdam criteria and a sebaceous carcinoma demonstrated loss of MSH2 and MSH6 proteins by immunohistochemistry (Everett JN et al. JAMA Dermatol. 2014 Dec;150:1315-21). In addition to the clinical data presented in the literature, 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. |
| Myriad Genetics, |
RCV003454993 | SCV004186905 | pathogenic | Lynch syndrome 1 | 2023-07-26 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |