Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002419695 | SCV002717987 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-17 | criteria provided, single submitter | clinical testing | The p.S676* pathogenic mutation (also known as c.2027C>A), located in coding exon 13 of the MSH2 gene, results from a C to A substitution at nucleotide position 2027. This changes the amino acid from a serine to a stop codon within coding exon 13. This mutation was identified in one individual with colorectal cancer undergoing multigene panel testing (Roberts ME et al. Genet. Med. 2018 10;20:1167-1174). 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, |
RCV003454319 | SCV004188126 | pathogenic | Lynch syndrome 1 | 2023-08-07 | 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. |
de |
RCV003454319 | SCV004022226 | likely pathogenic | Lynch syndrome 1 | 2023-07-21 | no assertion criteria provided | research | The variant NM_000251.3:c.2027C>A (chr2:47476388) in MSH2 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has not been reported in ClinVar previously. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic. |