Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001383620 | SCV001582839 | pathogenic | not provided | 2024-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys88Thrfs*5) in the MSH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653, 37402566). This variant is present in population databases (rs777843647, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071210). For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV003458685 | SCV004189090 | pathogenic | Familial adenomatous polyposis 4 | 2023-08-29 | 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 | RCV003462994 | SCV004197530 | likely pathogenic | Endometrial carcinoma | 2023-12-15 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004037664 | SCV005018805 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-14 | criteria provided, single submitter | clinical testing | The c.263_267delAGAGA pathogenic mutation, located in coding exon 2 of the MSH3 gene, results from a deletion of 5 nucleotides at nucleotide positions 263 to 267, causing a translational frameshift with a predicted alternate stop codon (p.K88Tfs*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. |