Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000164564 | SCV000215222 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Invitae | RCV000538505 | SCV000629163 | benign | Peutz-Jeghers syndrome | 2023-12-28 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000164564 | SCV000686711 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781889 | SCV000920274 | benign | not specified | 2017-11-09 | criteria provided, single submitter | clinical testing | Variant summary: The STK11 c.972G>A (p.Pro324Pro) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 8/216018 (2 homozygotes) control chromosomes (gnomAD), predominantly observed in the South Asian subpopulation at a frequency of 0.00029 (8/27558, 2 homozygotes)). This frequency is about 46 times the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000063), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. In addition, a clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign. |
| Gene |
RCV001551036 | SCV001771458 | likely benign | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016) |
| Genome- |
RCV000538505 | SCV002057450 | likely benign | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV000164564 | SCV002526968 | benign | Hereditary cancer-predisposing syndrome | 2021-04-19 | criteria provided, single submitter | curation |