Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001071416 | SCV001236720 | pathogenic | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys87Argfs*14) 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 (rs756190979, 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: 864272). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002436691 | SCV002745485 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-21 | criteria provided, single submitter | clinical testing | The c.260_263delAGAA pathogenic mutation, located in coding exon 2 of the MSH3 gene, results from a deletion of 4 nucleotides at nucleotide positions 260 to 263, causing a translational frameshift with a predicted alternate stop codon (p.K87Rfs*14). 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, |
RCV003458617 | SCV004189119 | 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 | RCV003462622 | SCV004197532 | likely pathogenic | Endometrial carcinoma | 2021-12-22 | criteria provided, single submitter | clinical testing |