ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) (rs45517360)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054560 SCV001218880 uncertain significance Tuberous sclerosis 2 2019-03-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1558 of the TSC2 protein (p.Glu1558Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with tuberous sclerosis complex (TSC) or clinical features of TSC (PMID: 16417848, 15798777, 11112665, 16114042). ClinVar contains an entry for this variant (Variation ID: 49794). 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"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200217 SCV001371117 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043059 SCV000066858 not provided Tuberous sclerosis syndrome no assertion provided curation

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