Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000797608 | SCV000937175 | pathogenic | not provided | 2025-01-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln192*) 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 (rs374133543, gnomAD 0.004%). 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: 643818). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV001024483 | SCV001186506 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-05-18 | criteria provided, single submitter | clinical testing | The p.Q192* pathogenic mutation (also known as c.574C>T), located in coding exon 3 of the MSH3 gene, results from a C to T substitution at nucleotide position 574. This changes the amino acid from a glutamine to a stop codon within coding exon 3. 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. |
| Gene |
RCV000797608 | SCV004031588 | likely pathogenic | not provided | 2024-05-14 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in a pediatric patient with high-grade glioma (PMID: 36541551); This variant is associated with the following publications: (PMID: 29641532, 27476653, 36541551) |
| Myriad Genetics, |
RCV003458525 | SCV004189053 | pathogenic | Familial adenomatous polyposis 4 | 2023-08-29 | 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. |
| Baylor Genetics | RCV003467363 | SCV004195119 | likely pathogenic | Endometrial carcinoma | 2024-03-08 | criteria provided, single submitter | clinical testing |