Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000629667 | SCV000750623 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2024-06-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1006*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 525587). For these reasons, this variant has been classified as Pathogenic. |
| Mendelics | RCV000986728 | SCV001135828 | likely pathogenic | Lynch syndrome 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001541581 | SCV001759599 | pathogenic | not provided | 2020-01-14 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV002438637 | SCV002754265 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-03 | criteria provided, single submitter | clinical testing | The p.Y1006* pathogenic mutation (also known as c.3018C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 3018. This changes the amino acid from a tyrosine to a stop codon within coding exon 4. 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, |
RCV000986728 | SCV004185864 | 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. |