ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.665T>C (p.Leu222Pro)

dbSNP: rs45517120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001852883 SCV002211581 uncertain significance Tuberous sclerosis 2 2021-08-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 49381). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 222 of the TSC2 protein (p.Leu222Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Tuberous sclerosis database (TSC2) RCV000042641 SCV000066436 not provided Tuberous sclerosis syndrome no assertion provided curation

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