Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075849 | SCV000106861 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability >0.99 |
Ambry Genetics | RCV000564973 | SCV000676022 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-07-15 | criteria provided, single submitter | clinical testing | The c.790+1delG intronic pathogenic mutation is located one nucleotide after coding exon 9 and results from the deletion of one nucleotide (G) within intron 9 of the MLH1 gene. This alteration has been reported in multiple individuals and families with Lynch syndrome related tumors. Furthermore, results from immunohistochemistry and microsatellite instability analyses in probands from these reported families were consistent with an MLH1 gene mutation (Mangold E et al. Int J Cancer. 2005 Sep 20;116(5):692-702; Mueller-Koch Y et al. Gut. 2005 Dec;54(12):1733-40). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as pathogenic. |
Constitutional Genetics Lab, |
RCV001249904 | SCV001423921 | pathogenic | Lynch-like syndrome | 2019-07-01 | no assertion criteria provided | clinical testing |