ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.670A>T (p.Met224Leu)

gnomAD frequency: 0.00001  dbSNP: rs535397245
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000641970 SCV000763622 likely benign Tuberous sclerosis 1 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025559 SCV001187767 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-23 criteria provided, single submitter clinical testing The p.M224L variant (also known as c.670A>T), located in coding exon 6 of the TSC1 gene, results from an A to T substitution at nucleotide position 670. The methionine at codon 224 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not 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.
Genome-Nilou Lab RCV000641970 SCV002039509 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477414 SCV002793909 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-05-19 criteria provided, single submitter clinical testing
GeneDx RCV004723021 SCV005331829 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.