ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2039G>A (p.Gly680Glu) (rs118203623)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226639 SCV000284689 uncertain significance Tuberous sclerosis 1 2017-05-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 680 of the TSC1 protein (p.Gly680Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with tuberous sclerosis complex (PMID: 9803264). This variant is also known as 2260G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 48876). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on TSC1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC1) RCV000042127 SCV000065912 not provided Tuberous sclerosis syndrome no assertion provided curation

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