ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile) (rs397515284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042510 SCV001206193 uncertain significance Tuberous sclerosis 2 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1068 of the TSC2 protein (p.Thr1068Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with diagnosis or suspicion of tuberous sclerosis complex (PMID: 21309039). ClinVar contains an entry for this variant (Variation ID: 65377). This variant has been reported to affect TSC2 protein function (PMID:18854862). 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) RCV000055605 SCV000083830 not provided Tuberous sclerosis syndrome no assertion provided curation

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