Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075689 | SCV000106692 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV000075689 | SCV000284060 | pathogenic | Lynch syndrome | 2015-12-25 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 5 of the MLH1 mRNA (c.382delG), causing a frameshift at codon 128. This creates a premature translational stop signal (p.Ala128Glnfs*8) and is expected to result in an absent or disrupted protein product. Truncating variants in MLH1 are known to be pathogenic. This particular truncation has been reported in a family with individuals affected with breast cancer and with colon cancer (PMID: 17026620). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001381184 | SCV001579473 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2015-12-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Truncating variants in MLH1 are known to be pathogenic. This particular truncation has been reported in a family with individuals affected with breast cancer and with colon cancer  (PMID: 17026620). This sequence change deletes 1 nucleotide from exon 5 of the MLH1 mRNA (c.382delG), causing a frameshift at codon 128. This creates a premature translational stop signal (p.Ala128Glnfs*8) and is expected to result in an absent or disrupted protein product. |