ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3434C>T (p.Pro1145Leu) (rs767904247)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642019 SCV000763672 uncertain significance Tuberous sclerosis 1 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1145 of the TSC1 protein (p.Pro1145Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs767904247, ExAC 0.009%). This variant has not been reported in the literature in individuals with TSC1-related disease. Experimental studies, in vitro, have shown that this missense change does not disrupt TSC1 protein function (PMID: 22903760). 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.

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