ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) (rs45517118)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644252 SCV000765944 uncertain significance Tuberous sclerosis 2 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 216 of the TSC2 protein (p.Glu216Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with tuberous sclerosis complex in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49379). Experimental studies have shown that this missense change does not significantly affect protein function, and is probably neutral (PMID: 21309039). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761074 SCV000890989 uncertain significance Ganglioneuroblastoma 2016-10-31 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042639 SCV000066434 not provided Tuberous sclerosis syndrome no assertion provided curation

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