ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2966+15G>A

dbSNP: rs779884344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519806 SCV000621884 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TSC2 gene. The c.2966+15 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2966+15 G>A variant is observed in 1/17232 (0.01%) alleles from individuals of East Asian background, in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.2966+15 G>A creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV002060284 SCV002477728 likely benign Tuberous sclerosis 2 2024-01-10 criteria provided, single submitter clinical testing

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