ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2882A>G (p.Glu961Gly) (rs760762170)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563196 SCV000675433 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Invitae RCV000796947 SCV000936482 uncertain significance Tuberous sclerosis 1 2018-09-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 961 of the TSC1 protein (p.Glu961Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs760762170, ExAC 0.01%). This variant has not been reported in the literature in individuals with TSC1-related disease. ClinVar contains an entry for this variant (Variation ID: 486579). 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: "Benign"; Align-GVGD: "Class C15"). 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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