ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)

dbSNP: rs777539610
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644117 SCV000765807 likely benign Tuberous sclerosis 2 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022882 SCV001184669 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-09 criteria provided, single submitter clinical testing The p.A1560T variant (also known as c.4678G>A), located in coding exon 36 of the TSC2 gene, results from a G to A substitution at nucleotide position 4678. The alanine at codon 1560 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001766382 SCV002001062 uncertain significance not provided 2024-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18466115, 38256219)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001766382 SCV002011327 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644117 SCV002040216 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153784 SCV003843801 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003996 SCV004843594 uncertain significance Tuberous sclerosis syndrome 2023-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568427 SCV005054454 uncertain significance Isolated focal cortical dysplasia type II 2024-02-29 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.