ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)

gnomAD frequency: 0.00001  dbSNP: rs1262368552
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
Ambry Genetics RCV001014084 SCV001174751 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-05 criteria provided, single submitter clinical testing The p.P672S variant (also known as c.2014C>T), located in coding exon 18 of the TSC2 gene, results from a C to T substitution at nucleotide position 2014. The proline at codon 672 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001054876 SCV001219234 benign Tuberous sclerosis 2 2023-07-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001054876 SCV002040667 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003117691 SCV003798567 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994192 SCV004813669 uncertain significance not specified 2024-02-04 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.