Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000491704 | SCV000580163 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | The c.1449_1462del14insAGC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from the deletion of 14 nucleotides and the insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon. 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. |
| Labcorp Genetics |
RCV000529324 | SCV000624651 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu484Alafs*10) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with MSH6-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV003449300 | SCV004187049 | pathogenic | Lynch syndrome 5 | 2023-08-14 | 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 | RCV003470599 | SCV004196339 | likely pathogenic | Endometrial carcinoma | 2022-01-23 | criteria provided, single submitter | clinical testing |