ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) (rs148064565)

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
GeneDx RCV000766956 SCV000243389 uncertain significance not provided 2018-08-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TPP1 gene. The D87G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D87G variant is observed in 27/10340 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D87G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000189741 SCV000615826 uncertain significance not specified 2017-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718344 SCV000849206 likely benign Seizures 2018-11-12 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Invitae RCV000766956 SCV001006629 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274545 SCV001458796 uncertain significance Ceroid lipofuscinosis neuronal 2 2020-04-14 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.