Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583777 | SCV000691070 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590705 | SCV000697363 | uncertain significance | not specified | 2019-07-10 | criteria provided, single submitter | clinical testing | Variant summary: PMS2 c.354-7C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 251138 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.354-7C>T in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Counsyl | RCV000662819 | SCV000785662 | likely benign | Lynch syndrome 4 | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000868952 | SCV001010337 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-23 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798905 | SCV002042808 | uncertain significance | Breast and/or ovarian cancer | 2019-11-21 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000662819 | SCV004019749 | likely benign | Lynch syndrome 4 | 2023-04-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |