ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)

gnomAD frequency: 0.00001  dbSNP: rs118203342
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000461171 SCV000552372 likely benign Tuberous sclerosis 1 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011985 SCV001172382 likely benign Hereditary cancer-predisposing syndrome 2019-02-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000461171 SCV002041158 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001011985 SCV002530913 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-21 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000042047 SCV004814307 uncertain significance Tuberous sclerosis syndrome 2023-08-15 criteria provided, single submitter clinical testing
GeneDx RCV004721251 SCV005327899 uncertain significance not provided 2024-02-01 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: 19747374)
Tuberous sclerosis database (TSC1) RCV000042047 SCV000065830 not provided Tuberous sclerosis syndrome no assertion provided curation
PreventionGenetics, part of Exact Sciences RCV004745178 SCV005357282 uncertain significance TSC1-related disorder 2024-03-08 no assertion criteria provided clinical testing The TSC1 c.153A>C variant is predicted to result in the amino acid substitution p.Glu51Asp. This variant has been reported in individual(s) with tuberous sclerosis complex (example, Table 2, van Slegtenhorst et al. 1999. PubMed ID: 10227394). Functional study has shown this variant was functionally neutral (Mozaffari et al. 2009. PubMed ID: 19747374). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Conflicting interpretations of pathogenicity of this variant range from benign to a variant of uncertain significance in Clinvar (https://www.ncbi.nlm.nih.gov/clinvar/variation/48800/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.