ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) (rs374410454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533936 SCV000644651 uncertain significance Tuberous sclerosis 2 2017-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 208 of the TSC2 protein (p.Arg208Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs374410454, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65103). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Tuberous sclerosis database (TSC2) RCV000055314 SCV000083534 not provided Tuberous sclerosis syndrome no assertion provided curation

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