ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) (rs137854214)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417966 SCV000518089 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081201 SCV000556677 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564954 SCV000675505 likely benign Hereditary cancer-predisposing syndrome 2018-10-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification;Intact protein function observed in appropriate functional assay(s)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000459470 SCV001150725 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042630 SCV000066424 not provided Tuberous sclerosis syndrome no assertion provided curation

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