ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) (rs137854123)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554931 SCV000644664 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612409 SCV000711361 uncertain significance not specified 2016-09-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Thr246Ala variant in TSC2 has been reported in 1 Asian individual as well as one family m ember with Tuberous Sclerosis (Sasongko 2008). This variant has been identified in 1/10372 African chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs137854123). Computational prediction tools and conservation analysis suggest that the p.Thr246Ala variant may impact the prote in, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Thr246Ala variant is uncertain.
Tuberous sclerosis database (TSC2) RCV000042644 SCV000066439 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000042644 SCV000190674 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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