ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) (rs45482691)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163281 SCV000213809 benign Hereditary cancer-predisposing syndrome 2014-07-03 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Intact protein function observed in appropriate functional assay(s);Other strong data supporting benign classification
GeneDx RCV001529022 SCV000243625 benign not provided 2019-03-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22903760, 24728327, 12111193)
Illumina Clinical Services Laboratory,Illumina RCV000042484 SCV000395555 benign Tuberous sclerosis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000473293 SCV000556653 benign Tuberous sclerosis 2 2020-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000122218 SCV000858361 benign not specified 2017-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000122218 SCV001476300 benign not specified 2019-10-30 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042484 SCV000066275 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122218 SCV000086439 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529022 SCV001741764 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000122218 SCV001926085 benign not specified no assertion criteria provided clinical testing

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