Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002439818 | SCV002750953 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-15 | criteria provided, single submitter | clinical testing | The p.W97* pathogenic mutation (also known as c.290G>A), located in coding exon 2 of the MSH6 gene, results from a G to A substitution at nucleotide position 290. This changes the amino acid from a tryptophan to a stop codon within coding exon 2. 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, |
RCV003455501 | SCV004185804 | pathogenic | Lynch syndrome 5 | 2023-08-10 | 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. |