ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-10A>C (rs1800718)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000118712 SCV000605463 benign not specified 2016-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576820 SCV000677555 benign Tuberous sclerosis 2 2017-04-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118712 SCV000153127 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000042691 SCV000395676 benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589236 SCV000697474 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The TSC2 c.5161-10A>C variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 24902/120464 (3635 homozygotes, 1/4), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic TSC2 variant of 1/14534 (0.0000688), suggesting this variant is likely a benign polymorphism. In addition, multiple reputable clinical laboratories cite the variant as "benign/likely benign." Therefore, the variant of interest has been classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118712 SCV000205289 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 5161-10A>C in intron 40 of TSC2: This variant is not expected to have clinical s ignificance because it has been identified in 45.7% (2010/4396) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs1800718).
PreventionGenetics RCV000118712 SCV000305240 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042691 SCV000066486 not provided Tuberous sclerosis syndrome no assertion provided curation

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.