Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487254 | SCV000568037 | pathogenic | not provided | 2015-09-25 | criteria provided, single submitter | clinical testing | This deletion of 2 nucleotides in MSH6 is denoted c.2500_2501delAG at the cDNA level and p.Gln835GlufsX11 (Q835EfsX11) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAG[AG]TCAG. The deletion causes a frameshift, which changes a Glutamine to a Glutamic Acid at codon 835, and creates a premature stop codon at position 11 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic. |
Labcorp Genetics |
RCV001213007 | SCV001384620 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-08-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln835Glufs*11) 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: 419875). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003449202 | SCV004187285 | pathogenic | Lynch syndrome 5 | 2023-08-17 | 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 | RCV004568172 | SCV005055980 | likely pathogenic | Endometrial carcinoma | 2023-11-09 | criteria provided, single submitter | clinical testing |