Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410432 | SCV000489653 | likely benign | Cowden syndrome 1 | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000464000 | SCV000554540 | likely benign | PTEN hamartoma tumor syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000775839 | SCV000910308 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193511 | SCV001362397 | uncertain significance | not specified | 2019-05-06 | criteria provided, single submitter | clinical testing | Variant summary: PTEN c.801+8C>G 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 4e-06 in 251272 control chromosomes. 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.801+8C>G in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Myriad Genetics, |
RCV000410432 | SCV004019976 | likely benign | Cowden syndrome 1 | 2023-04-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |