ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) (rs397514908)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527511 SCV000644327 uncertain significance Tuberous sclerosis 2 2017-01-09 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 728 of the TSC2 protein (p.Cys728Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 64882). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC2) RCV000055082 SCV000083300 not provided Autism spectrum disorder no assertion provided curation

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