Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000524764 | SCV000624580 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-07-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 5-7 and the first 103 nucleotides of exon 8, including the intron 4-exon 5 boundary. In addition, this sequence change inserts 16 nucleotides in exon 8 of the MSH6 gene (c.3172+807_3749delins16). This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH6-related conditions. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic. |