ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.80-5C>T

dbSNP: rs1060503842
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV000474539 SCV002576571 uncertain significance PTEN hamartoma tumor syndrome 2020-10-20 reviewed by expert panel curation PTEN c.80-5C>T (IVS1-5C>T) 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). PM2: Absent in large sequenced populations
Labcorp Genetics (formerly Invitae), Labcorp RCV000474539 SCV000554533 likely benign PTEN hamartoma tumor syndrome 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001027126 SCV001189632 likely benign Hereditary cancer-predisposing syndrome 2022-12-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV001027126 SCV001360383 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001637034 SCV001849872 likely benign not provided 2019-08-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.