ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2647C>G (p.Gln883Glu)

dbSNP: rs45476100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232046 SCV000285309 uncertain significance Tuberous sclerosis 2 2020-03-12 criteria provided, single submitter clinical testing In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. 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 tolerated, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC2-related disease. This sequence change replaces glutamine with glutamic acid at codon 883 of the TSC2 protein (p.Gln883Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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