Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507540 | SCV000601857 | likely pathogenic | not provided | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530268 | SCV000625682 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln237*) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 439245). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000662813 | SCV000785649 | likely pathogenic | Lynch syndrome 4 | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001026032 | SCV001188335 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-21 | criteria provided, single submitter | clinical testing | The p.Q237* pathogenic mutation (also known as c.709C>T), located in coding exon 7 of the PMS2 gene, results from a C to T substitution at nucleotide position 709. This changes the amino acid from a glutamine to a stop codon within coding exon 7. 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, |
RCV000662813 | SCV004019728 | pathogenic | Lynch syndrome 4 | 2023-04-03 | 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 |
RCV000662813 | SCV004022258 | likely pathogenic | Lynch syndrome 4 | 2023-07-21 | no assertion criteria provided | research | The variant NM_000535.7:c.709C>T (chr7:5997420) in PMS2 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has been reported in ClinVar previously as pathogenic/likely pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic. |