Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000990132 | SCV000253268 | likely benign | Peutz-Jeghers syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679329 | SCV000602243 | likely benign | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000081 (2/24694 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect STK11 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |
Color Diagnostics, |
RCV000580751 | SCV000686706 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679329 | SCV000806095 | likely benign | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990132 | SCV001140944 | likely benign | Peutz-Jeghers syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000507064 | SCV001482087 | uncertain significance | not specified | 2021-02-12 | criteria provided, single submitter | clinical testing | Variant summary: STK11 c.921-9C>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. 3/4 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 4.6e-05 in 153524 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.921-9C>T in individuals affected with Peutz-Jeghers Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=1) and likely benign (n=4). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Gene |
RCV000679329 | SCV001895453 | likely benign | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000990132 | SCV002057320 | likely benign | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000580751 | SCV002526961 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-20 | criteria provided, single submitter | curation |