Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040468 | SCV001204044 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-05-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln324Hisfs*10) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This premature translational stop signal has been observed in individual(s) with Lynch syndrome-associated tumors (PMID: 25559809, 29706558; Invitae). This variant is also known as c.967_968insCTCA and Ser323fs. ClinVar contains an entry for this variant (Variation ID: 838837). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003455164 | SCV004187928 | pathogenic | Lynch syndrome 1 | 2023-07-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |