ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)

dbSNP: rs45517367
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820413 SCV000961124 pathogenic Tuberous sclerosis 2 2021-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TSC2 protein function. This variant has been observed in several individuals with clinical features of tuberous sclerosis complex (PMID: 17304050, 21309039, Inviate). This variant is also known as L1555P. ClinVar contains an entry for this variant (Variation ID: 50095). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 1578 of the TSC2 protein (p.Leu1578Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Tuberous sclerosis database (TSC2) RCV000043361 SCV000067167 not provided Tuberous sclerosis syndrome no assertion provided curation

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.