Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032283 | SCV001195590 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-09-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 6-8 of the MLH1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). A similar copy number variant has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 26248088). For these reasons, this variant has been classified as Pathogenic. |