ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2635A>G (p.Met879Val)

dbSNP: rs778416424
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
Invitae RCV001227729 SCV001400099 likely benign Tuberous sclerosis 1 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001575745 SCV001802800 uncertain significance not provided 2018-10-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001227729 SCV002040405 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429969 SCV002743281 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-18 criteria provided, single submitter clinical testing The p.M879V variant (also known as c.2635A>G), located in coding exon 19 of the TSC1 gene, results from an A to G substitution at nucleotide position 2635. The methionine at codon 879 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003473792 SCV004204450 uncertain significance Isolated focal cortical dysplasia type II 2023-08-15 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.