ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.*10del

dbSNP: rs756681683
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen 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.
GeneDx 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, LLC DBA Color Health 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, LabCorp 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, Children's Hospital of Eastern Ontario 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.

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