ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2836A>T (p.Ser946Cys) (rs1060503225)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470724 SCV000552362 uncertain significance Tuberous sclerosis 1 2016-06-24 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 946 of the TSC1 protein (p.Ser946Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC1-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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