ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1076-18A>G (rs78676565)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589362 SCV000696661 benign not provided 2017-08-22 criteria provided, single submitter clinical testing Variant summary: The TPP1 c.1076-18A>G variant involves the alteration of a non-conserved intronic nucleotide and 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 2197/277104 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.013043 (1652/126656). This frequency is about 4 times the estimated maximal expected allele frequency of a pathogenic TPP1 variant (0.002958), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000589362 SCV001723037 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000589362 SCV000801140 likely benign not provided 2017-05-17 no assertion criteria provided 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.