ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys) (rs397515261)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703585 SCV000832491 uncertain significance Tuberous sclerosis 2 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 462 of the TSC2 protein (p.Arg462Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with tuberous sclerosis (PMID: 22903760, 21520333). ClinVar contains an entry for this variant (Variation ID: 65350). Experimental studies have shown that this missense change disrupts TSC1-TSC2 interaction and protein function in vitro (PMID: 22903760). 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.
Tuberous sclerosis database (TSC2) RCV000055574 SCV000083798 not provided Tuberous sclerosis syndrome no assertion provided curation

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