Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000811578 | SCV000951851 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2020-11-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant has not been reported in the literature in individuals with MSH6-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1007*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002440757 | SCV002753082 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-21 | criteria provided, single submitter | clinical testing | The p.W1007* pathogenic mutation (also known as c.3021G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 3021. This changes the amino acid from a tryptophan to a stop codon within coding exon 4. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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, |
RCV003453698 | SCV004187107 | pathogenic | Lynch syndrome 5 | 2023-08-22 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
| Baylor Genetics | RCV004569673 | SCV005054979 | likely pathogenic | Endometrial carcinoma | 2024-01-03 | criteria provided, single submitter | clinical testing |