ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.370A>G (p.Thr124Ala) (rs745871522)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642038 SCV000763691 uncertain significance Tuberous sclerosis 1 2017-12-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 124 of the TSC1 protein (p.Thr124Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs745871522, ExAC 0.001%). This variant has not been reported in the literature in individuals with TSC1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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