ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)

gnomAD frequency: 0.00001  dbSNP: rs200411484
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840982 SCV000982936 likely benign not provided 2018-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001034267 SCV001197603 likely benign Tuberous sclerosis 2 2024-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001034267 SCV002039410 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372380 SCV002624553 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-27 criteria provided, single submitter clinical testing The p.S1337F variant (also known as c.4010C>T), located in coding exon 33 of the TSC2 gene, results from a C to T substitution at nucleotide position 4010. The serine at codon 1337 is replaced by phenylalanine, an amino acid with highly dissimilar 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.
All of Us Research Program, National Institutes of Health RCV004002891 SCV004829800 uncertain significance Tuberous sclerosis syndrome 2024-06-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001034267 SCV005404737 benign Tuberous sclerosis 2 2024-09-09 criteria provided, single submitter clinical testing This variant is considered benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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.