Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV002268568 | SCV002550753 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002539745 | SCV003471496 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-11-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003407777 | SCV004114825 | uncertain significance | PMS2-related disorder | 2022-11-30 | criteria provided, single submitter | clinical testing | The PMS2 c.11C>G variant is predicted to result in premature protein termination (p.Ser4*). However, this variant is located in the first coding exon of a non-canonical transcript (NM_001322015.1). Using the most commonly reported PMS2 canonical transcript (NM_000535.6) this variant is located in intron 4, and called c.354-34C>G. This variant has been reported in individuals with renal cell carcinoma but no additional studies supported its pathogenicity (Smith et al. 2021. PubMed ID: 32830346). This variant is reported in 0.043% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which is higher than expected for a pathogenic variant in this gene (http://gnomad.broadinstitute.org/variant/7-6042301-G-C; 70 total heterozygous individuals of unknown phenotype). It is reported as likely benign by multiple labs in ClinVar. Although we expect this alteration is more likely to be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723272 | SCV001956669 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723272 | SCV001965414 | likely benign | not provided | no assertion criteria provided | clinical testing |