ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2966C>T (p.Ala989Val) (rs1554813219)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535695 SCV000641606 uncertain significance Tuberous sclerosis 1 2017-02-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 989 of the TSC1 protein (p.Ala989Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. 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: "Benign"; Align-GVGD: "Class C0"). 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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