ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2420T>C (p.Ile807Thr) (rs118203690)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642006 SCV000763659 uncertain significance Tuberous sclerosis 1 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 807 of the TSC1 protein (p.Ile807Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with tuberous sclerosis complex in the Leiden Open-source Variation Database (PMID: 21520333).  ClinVar contains an entry for this variant (Variation ID: 48952). Experimental studies have shown that this missense change does not impact TSC1 protein function (PMID: 19747374, 21309039). 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 (TSC1) RCV000042203 SCV000065989 not provided Tuberous sclerosis syndrome no assertion provided curation

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