ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) (rs45517281)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000190879 SCV000644404 uncertain significance Tuberous sclerosis 2 2018-04-01 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 1036 of the TSC2 protein (p.Ser1036Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with seizures and minor features of tuberous sclerosis in one family. However, two members of this family that also carry this variant were asymptomatic (PMID: 12913212). ClinVar contains an entry for this variant (Variation ID: 50043). Experimental studies have shown that this missense change reduces the ability of the TSC2 protein to inhibit the downstream TORC1 pathway (PMID: 21309039, 21332470). 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) RCV000043309 SCV000067115 not provided Tuberous sclerosis syndrome no assertion provided curation
GeneReviews RCV000190879 SCV000245752 pathogenic Tuberous sclerosis 2 2015-09-03 no assertion criteria provided literature only

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