ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1281C>G (p.Ile427Met) (rs45478892)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463226 SCV000544504 uncertain significance Tuberous sclerosis 2 2016-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 427 of the TSC2 protein (p.Ile427Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with suspected tuberous sclerosis complex (PMID: 22903760). ClinVar contains an entry for this variant (Variation ID: 64940). Experimental studies have shown that this missense has an intermediate effect on TSC2 protein function (PMID:22903760). In summary, this variant has been reported in one affected individual and to moderately affect TSC2 protein function. In the absence of additional clinical or experimental data, this this change has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC2) RCV000055143 SCV000083361 not provided Tuberous sclerosis syndrome no assertion provided curation

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