ClinVar Miner

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

dbSNP: 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 2022-01-17 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects TSC2 function (PMID: 21309039, 21332470). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 50043). This missense change has been observed in individual(s) with clinical feature of tuberous sclerosis complex (PMID: 12913212). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1036 of the TSC2 protein (p.Ser1036Pro).
Tuberous sclerosis database (TSC2) RCV000043309 SCV000067115 not provided Tuberous sclerosis syndrome no assertion provided curation
GeneReviews RCV000190879 SCV000245752 not provided Tuberous sclerosis 2 no assertion provided literature only

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