Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000491318 | SCV000580171 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-03 | criteria provided, single submitter | clinical testing | The p.E52* pathogenic mutation (also known as c.154G>T), located in coding exon 1 of the MSH6 gene, results from a G to T substitution at nucleotide position 154. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. 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 |
RCV001383954 | SCV001583283 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-02-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu52*) 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: 428328). For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV003449303 | SCV004188285 | pathogenic | Lynch syndrome 5 | 2023-08-09 | 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 | RCV003470600 | SCV004196349 | likely pathogenic | Endometrial carcinoma | 2021-11-04 | criteria provided, single submitter | clinical testing |