ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro) (rs45517367)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820413 SCV000961124 uncertain significance Tuberous sclerosis 2 2019-01-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1578 of the TSC2 protein (p.Leu1578Pro). 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 in several individuals with suspected or confirmed diagnosis of tuberous sclerosis complex (PMID: 17304050, 21309039). This variant is also known as L1555P in the literature. ClinVar contains an entry for this variant (Variation ID: 50095). 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.
Tuberous sclerosis database (TSC2) RCV000043361 SCV000067167 not provided Tuberous sclerosis syndrome no assertion provided curation

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