Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001070155 | SCV001235370 | uncertain significance | not provided | 2023-03-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the MSH3 gene. It does not directly change the encoded amino acid sequence of the MSH3 protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with MSH3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 863233). |
| Ambry Genetics | RCV002355097 | SCV002652173 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-20 | criteria provided, single submitter | clinical testing | The c.579+3_579+4dupAT intronic variant results from a duplication of 2 nucleotide(s) after coding exon 3 of the MSH3 gene. This region is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |