Table 3.

Types of Pathogenic Variants Observed in TSC1 (n=651)

TypePercent of All TSC1 Pathogenic Variants 1
Small deletions and insertions57.8%
Nonsense22.7%
Splice10.9%
Large deletions and rearrangements2.9%
Missense 25.7%
1.

Estimated percentages from LOVD

2.

A small percentage of missense variants have been identified in TSC1 with demonstrated functional loss by in vitro assays [Choi et al 2006, Lee et al 2007, Mozaffari et al 2009, Nellist et al 2009, Hoogeveen-Westerveld et al 2012].

From: Tuberous Sclerosis Complex

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