Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521070 | SCV000618421 | pathogenic | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | This variant is denoted PMS2 c.1987G>T at the cDNA level and p.Glu663Ter (E663X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic. |
Ambry Genetics | RCV000574914 | SCV000670862 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-15 | criteria provided, single submitter | clinical testing | The p.E663* pathogenic mutation (also known as c.1987G>T), located in coding exon 11 of the PMS2 gene, results from a G to T substitution at nucleotide position 1987. This changes the amino acid from a glutamic acid to a stop codon within coding exon 11. 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. |
Myriad Genetics, |
RCV003449484 | SCV004187695 | pathogenic | Lynch syndrome 4 | 2023-09-21 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |