ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)

dbSNP: rs397515249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053191 SCV001217438 uncertain significance Tuberous sclerosis 2 2019-03-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 219 of the TSC2 protein (p.Leu219Pro). 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 reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65337). This variant has been reported to affect TSC2 protein function (PMID: 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.
MGZ Medical Genetics Center RCV001053191 SCV002579265 pathogenic Tuberous sclerosis 2 2021-08-10 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055561 SCV000083785 not provided Tuberous sclerosis syndrome no assertion provided curation

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