ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg)

dbSNP: rs45483301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807899 SCV000947979 uncertain significance Tuberous sclerosis 2 2018-09-13 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Cys696 amino acid residue in TSC2. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 10205261), which suggests that this may be a clinically significant amino acid residue. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individuals with tuberous sclerosis complex (PMID: 16981987, 14641237, 21510812). ClinVar contains an entry for this variant (Variation ID: 50105). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 696 of the TSC2 protein (p.Cys696Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.
Tuberous sclerosis database (TSC2) RCV000043372 SCV000067178 not provided Tuberous sclerosis syndrome no assertion provided curation

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