Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076431 | SCV000107460 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Interrupts canonical donor splice site |
Neuberg Centre For Genomic Medicine, |
RCV001823111 | SCV002073147 | likely pathogenic | Lynch syndrome 1 | criteria provided, single submitter | clinical testing | The splice acceptor variant c.2211-2A>C in MSH2 (NM_000251.3) has been previously reported in affected individuals (Zhang Li et al). The variant has been classified as Likely Pathogenic in ClinVar by an expert review panel. The c.2211-2A>C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant affects an invariant splice site and hence is expected to cause protein truncation. For these reasons, this variant has been classified as Likely Pathogenic. |