ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.321T>C (p.Asp107=) (rs372876243)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163666 SCV000214238 likely benign Hereditary cancer-predisposing syndrome 2016-02-08 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 RCV001081720 SCV000284588 likely benign PTEN hamartoma tumor syndrome 2020-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000590378 SCV000514310 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590378 SCV000696533 benign not provided 2017-01-10 criteria provided, single submitter clinical testing Variant summary: The PTEN c.321T>C (p.Asp107Asp) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/121362 control chromosomes at a frequency of 0.0000247, which is approximately 4 times the estimated maximal expected allele frequency of a pathogenic PTEN variant (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. One LCA sample also carried pathogenic variants in BRCA2 c.1796_1800delCTTAT/p.S599X and c.4092_4093insAA/p.C1365fsX10, further supporting the benign classification of this variant. Taken together, this variant is classified as benign.
Color Health, Inc RCV000163666 SCV001355052 likely benign Hereditary cancer-predisposing syndrome 2019-10-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590378 SCV001469638 likely benign not provided 2019-10-08 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.