Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001938096 | SCV002185168 | pathogenic | not provided | 2024-06-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln743*) 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 (no rsID available, gnomAD 0.0009%). 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: 1408605). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002425231 | SCV002726302 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-02-22 | criteria provided, single submitter | clinical testing | The p.Q743* pathogenic mutation (also known as c.2227C>T), located in coding exon 15 of the MSH3 gene, results from a C to T substitution at nucleotide position 2227. This changes the amino acid from a glutamine to a stop codon within coding exon 15. 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, |
RCV003458791 | SCV004189116 | pathogenic | Familial adenomatous polyposis 4 | 2023-08-30 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |