Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075401 | SCV000106396 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV001013518 | SCV001174114 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-15 | criteria provided, single submitter | clinical testing | The c.1884_1888delGGAAA pathogenic mutation, located in coding exon 16 of the MLH1 gene, results from a deletion of 5 nucleotides at nucleotide positions 1884 to 1888, causing a translational frameshift with a predicted alternate stop codon (p.L628Ffs*2). (Kruse R et al. Am. J. Hum. Genet., 1998 Jul;63:63-70,).This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Ce |
RCV003311676 | SCV004011455 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | MLH1: PVS1, PM2 |