Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000030226 | SCV000106730 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Variant causes splicing aberration: full inactivation of variant allele |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030226 | SCV000052893 | pathogenic | Lynch syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Pathogenic. |
Invitae | RCV001067834 | SCV001232915 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 5 of the MLH1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Lynch syndrome (PMID: 7584997, 8940269, 10829038, 14574010, 23544471, 27601186). It is commonly reported in individuals of Finnish ancestry (PMID: 8940269, 19931546). ClinVar contains an entry for this variant (Variation ID: 36553). Studies have shown that disruption of this splice site results in skipping of exon 6 and introduces a premature termination codon (PMID: 15235038; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000018611 | SCV000038894 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 1996-12-01 | no assertion criteria provided | literature only | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001725119 | SCV001960033 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725119 | SCV001970851 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Gene |
RCV001804749 | SCV002054070 | not provided | Lynch syndrome 1 | no assertion provided | literature only |