Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001013386 | SCV001173965 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-29 | criteria provided, single submitter | clinical testing | The c.1850_1851dupTT pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a duplication of TT at nucleotide position 1850, causing a translational frameshift with a predicted alternate stop codon (p.P618Ffs*18). 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. |
Baylor Genetics | RCV003461332 | SCV004196867 | likely pathogenic | Lynch syndrome 1 | 2023-02-20 | criteria provided, single submitter | clinical testing |