ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val) (rs137854103)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571827 SCV000675780 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001209976 SCV001381439 uncertain significance Tuberous sclerosis 2 2019-10-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 661 of the TSC2 protein (p.Gly661Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of tuberous sclerosis complex (PMID: 22903760). ClinVar contains an entry for this variant (Variation ID: 49698). This variant has been reported not to substantially affect TSC2 protein function (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) RCV000042961 SCV000066758 not provided Tuberous sclerosis syndrome no assertion provided curation

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