ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5058G>C (p.Gln1686His)

dbSNP: rs200700923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528978 SCV000644599 uncertain significance Tuberous sclerosis 2 2018-09-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 468134). This sequence change replaces glutamine with histidine at codon 1686 of the TSC2 protein (p.Gln1686His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.

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