Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000465518 | SCV000551063 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-08-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 410404). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1193Lysfs*2) 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). |
| Gene |
RCV000482445 | SCV000569398 | pathogenic | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing | Frameshift 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; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29345684, 30787465, 36230473, 28888541) |
| Ambry Genetics | RCV000491877 | SCV000580215 | pathogenic | Hereditary cancer-predisposing syndrome | 2013-11-27 | criteria provided, single submitter | clinical testing | ​The c.3575_3579delTTGAA pathogenic mutation, located in coding exon 7 of the MSH6 gene, results from a deletion of 5 nucleotides between positions 3575 and 3579, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
| Myriad Genetics, |
RCV003449141 | SCV004188211 | pathogenic | Lynch syndrome 5 | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003463926 | SCV004196352 | likely pathogenic | Endometrial carcinoma | 2021-10-11 | criteria provided, single submitter | clinical testing |