Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026641 | SCV001189064 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-23 | criteria provided, single submitter | clinical testing | The c.762dupT pathogenic mutation (also known as p.E255*), located in coding exon 4 of the MSH6 gene, results from a duplication of T at nucleotide position 762. This changes the amino acid from a glutamic acid to a stop codon within coding exon X. 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, |
RCV003455138 | SCV004187153 | 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. |