ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.571C>T (p.Leu191Phe)

dbSNP: rs1555498201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644190 SCV000765880 uncertain significance Tuberous sclerosis 2 2021-02-18 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with TSC2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 191 of the TSC2 protein (p.Leu191Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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