Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228714 | SCV001401129 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-07-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant has not been reported in the literature in individuals with MSH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu251Argfs*5) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002393564 | SCV002674151 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-06-07 | criteria provided, single submitter | clinical testing | The c.746dupA pathogenic mutation, located in coding exon 4 of the MSH2 gene, results from a duplication of A at nucleotide position 746, causing a translational frameshift with a predicted alternate stop codon (p.E251Rfs*5). 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, |
RCV003449719 | SCV004186812 | pathogenic | Lynch syndrome 1 | 2023-07-27 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |