ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) (rs137854146)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691590 SCV000819376 pathogenic Tuberous sclerosis 2 2018-03-01 criteria provided, single submitter clinical testing This variant, c.4655_4657delAAG, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Glu1552del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with tuberous sclerosis (PMID: 11112665, 22903760, 23389244). This variant is also known as 4654_4656delGAA in the literature. ClinVar contains an entry for this variant (Variation ID: 49310). Experimental studies have shown that this missense change disrupts protein function (PMID: 22903760). For these reasons, this variant has been classified as Pathogenic.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV000691590 SCV001424969 pathogenic Tuberous sclerosis 2 2020-07-10 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042570 SCV000066364 not provided Tuberous sclerosis syndrome no assertion provided curation

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