Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507244 | SCV000601505 | likely pathogenic | not provided | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420279 | SCV002677383 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-23 | criteria provided, single submitter | clinical testing | The c.1254_1255delTC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 1254 to 1255, causing a translational frameshift with a predicted alternate stop codon (p.Q419Efs*3). 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, |
RCV003449449 | SCV004185896 | pathogenic | Lynch syndrome 5 | 2023-08-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
All of Us Research Program, |
RCV004003550 | SCV004839360 | likely pathogenic | Lynch syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | This variant is predicted to result in loss of protein function through nonsense-mediated decay or protein truncation. Loss of function is an established mechanism of disease. To date, this variant has not been reported in association with human disease in the medical literature. This variant is absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). |