ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) (rs45481199)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807349 SCV000947397 likely pathogenic Tuberous sclerosis 2 2018-09-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 466 of the TSC2 protein (p.Leu466Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of tuberous sclerosis (Invitae). ClinVar contains an entry for this variant (Variation ID: 50194). Experimental studies have shown that this missense change results in an unstable protein and impairs protein function in vitro (PMID: 21309039). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043463 SCV000067273 not provided Tuberous sclerosis syndrome no assertion provided curation

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