Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000115541 | SCV000149450 | pathogenic | not provided | 2018-10-22 | criteria provided, single submitter | clinical testing | This variant is denoted MSH2 c.70C>T at the cDNA level and p.Gln24Ter (Q24X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with a personal history of endometrial and peritoneal cancer (Susswein 2016), and is considered pathogenic. |
Color | RCV000772129 | SCV000905217 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772129 | SCV001188342 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-06-12 | criteria provided, single submitter | clinical testing | Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes) |