ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) (rs45517294)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000055184 SCV000190669 uncertain significance Tuberous sclerosis syndrome 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Ambry Genetics RCV000163263 SCV000213791 likely benign Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence;Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification
GeneDx RCV000034650 SCV000243579 benign not provided 2019-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22903760, 27600092, 22703879, 25637381, 27997549, 24728327, 10732801, 24055113, 30111351)
Invitae RCV000989431 SCV000285349 benign Tuberous sclerosis 2 2020-12-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000122226 SCV000855940 likely benign not specified 2017-08-14 criteria provided, single submitter clinical testing
Mendelics RCV000989431 SCV001139754 benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055184 SCV001275879 uncertain significance Tuberous sclerosis syndrome 2018-08-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034650 SCV000043533 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC2) RCV000055184 SCV000083402 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122226 SCV000086447 not provided not specified 2013-09-19 no assertion provided reference population
Clinical Genetics,Academic Medical Center RCV000034650 SCV001917616 likely benign not provided no assertion criteria provided 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.