Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clingen PTEN Variant Curation Expert Panel, |
RCV000735266 | SCV000863479 | uncertain significance | PTEN hamartoma tumor syndrome | 2020-06-18 | reviewed by expert panel | curation | PTEN c.*10del (NC_000010.10:g.89725239delT) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). No criteria currently apply to this variant. |
Gene |
RCV000169817 | SCV000222136 | benign | Hereditary cancer-predisposing syndrome | 2014-02-24 | criteria provided, single submitter | clinical testing | The variant is found in PTEN panel(s). |
Counsyl | RCV000411453 | SCV000488168 | uncertain significance | Cowden syndrome 1 | 2016-01-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000169817 | SCV000686267 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001731500 | SCV001983451 | uncertain significance | not specified | 2021-09-04 | criteria provided, single submitter | clinical testing | Variant summary: PTEN c.*10delT is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 2.1e-05 in 238640 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.*10delT in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories and an expert panel (ClinGen PTEN Variant Curation Expert Panel) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (VUS, n=2 to include the expert panel; likely benign, n=1). Based on the evidence outlined above, the variant was classified as uncertain significance. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798609 | SCV002042716 | uncertain significance | Breast and/or ovarian cancer | 2020-06-18 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477645 | SCV004219116 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.000037 (4/108062 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in an individual with mild autism spectrum disorder, intellectual delay, and macrocephaly (PMID: 34268892 (2021)). Based on the available information, we are unable to determine the clinical significance of this variant. |