Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000630182 | SCV000751138 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-06-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 525839). This premature translational stop signal has been observed in individual(s) with colorectal cancer or endometrial cancer (PMID: 20028993). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1085Asnfs*8) 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). |
Ambry Genetics | RCV002448930 | SCV002611297 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-12-22 | criteria provided, single submitter | clinical testing | The c.3253dupA variant, located in coding exon 5 of the MSH6 gene, results from a duplication of A at nucleotide position 3253, causing a translational frameshift with a predicted alternate stop codon (p.T1085Nfs*8). 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, |
RCV003451506 | SCV004187397 | pathogenic | Lynch syndrome 5 | 2023-08-22 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |