Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000490928 | SCV000580250 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-25 | criteria provided, single submitter | clinical testing | The c.1937delA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 1937, causing a translational frameshift with a predicted alternate stop codon (p.K646Sfs*2). 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 |
RCV001383262 | SCV001582350 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys646Serfs*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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 428368). For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV003449313 | SCV004185844 | pathogenic | Lynch syndrome 5 | 2023-08-16 | 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 | RCV003464053 | SCV004195813 | likely pathogenic | Endometrial carcinoma | 2023-04-26 | criteria provided, single submitter | clinical testing |