Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128292 | SCV000171884 | benign | not specified | 2014-03-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000195449 | SCV000253252 | likely benign | Peutz-Jeghers syndrome | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000195449 | SCV000489016 | likely benign | Peutz-Jeghers syndrome | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000128292 | SCV000602222 | likely benign | not specified | 2016-12-17 | criteria provided, single submitter | clinical testing | |
Color | RCV000580100 | SCV000686642 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-24 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000586954 | SCV000696717 | likely benign | not provided | 2017-02-02 | criteria provided, single submitter | clinical testing | Variant summary: The STK11 c.375-7G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4/29158 control chromosomes (1 homozygote) at a frequency of 0.0001372, which is approximately 22 times the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likley benign. The variant was reported in one publication in an endometrial cancer patient, without strong evidence for causality (Ring_2016). While the small number of individuals in ExAC with this variant does not allow for the conclusive classification of benign, this variant has been classified as Likely Benign. |
Prevention |
RCV000586954 | SCV000806077 | likely benign | not provided | 2018-01-17 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000586954 | SCV000889857 | benign | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing |