Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023826 | SCV001185755 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-04 | criteria provided, single submitter | clinical testing | The c.526delA pathogenic mutation, located in coding exon 6 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 526, causing a translational frameshift with a predicted alternate stop codon (p.I176Ffs*26). This mutation has been detected in Japanese Lynch syndrome patients (Ishida H et al. J Anus Rectum Colon 2018; 2; Ikenoue T et al. J Hum Genet, 2019 Dec;64:1187-1194). In addition to the clinical data presented in the literature, 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, |
RCV003455125 | SCV004186464 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-14 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |