ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4799G>T (p.Cys1600Phe)

dbSNP: rs1596439356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801936 SCV000941741 uncertain significance Tuberous sclerosis 2 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 1600 of the TSC2 protein (p.Cys1600Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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