ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile)

dbSNP: rs397515024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797820 SCV000937402 uncertain significance Tuberous sclerosis 2 2022-12-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1075 of the TSC2 protein (p.Thr1075Ile). ClinVar contains an entry for this variant (Variation ID: 65039). This missense change has been observed in individual(s) with clinical features of TSC2-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). 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 not expected to disrupt TSC2 protein function. 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 does not substantially affect TSC2 function (PMID: 18854862, 21309039).
Tuberous sclerosis database (TSC2) RCV000055244 SCV000083463 not provided Tuberous sclerosis syndrome no assertion provided curation

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