Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000491955 | SCV000580330 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-01-19 | criteria provided, single submitter | clinical testing | The c.356dupT pathogenic mutation, located in coding exon 2 of the MSH6 gene, results from a duplication of T at nucleotide position 356, causing a translational frameshift with a predicted alternate stop codon (p.I120Hfs*16). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 |
RCV001208053 | SCV001379425 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-05-11 | criteria provided, single submitter | clinical testing | 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.Ile120Hisfs*16) 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). ClinVar contains an entry for this variant (Variation ID: 428411). For these reasons, this variant has been classified as Pathogenic. |
| Ce |
RCV001726195 | SCV001962249 | pathogenic | not provided | 2021-08-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001726195 | SCV002015697 | pathogenic | not provided | 2021-11-08 | 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; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge |
| Myriad Genetics, |
RCV003449330 | SCV004187061 | pathogenic | Lynch syndrome 5 | 2023-08-10 | 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 | RCV003470603 | SCV004198139 | likely pathogenic | Endometrial carcinoma | 2022-07-26 | criteria provided, single submitter | clinical testing | |
| German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV000785437 | SCV000924009 | pathogenic | Ovarian neoplasm | 2018-12-01 | no assertion criteria provided | research |