ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5160+1G>T (rs45517399)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441636 SCV000535389 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing The c.5160+1 G>T splice site variant in the TSC2 gene destroys the canonical splice donor site for intron 40. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. It has been reported as a pathogenic variant in the TSC2 LOVD database (TSC2 LOVD). Additionally, many other splice variants have been reported in the Human Gene Mutation Database in association with tuberous sclerosis (Stenson et al., 2014). The c.5160+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, c.5160+1 G>T is interpreted to be a pathogenic variant.
Tuberous sclerosis database (TSC2) RCV000042687 SCV000066482 not provided Tuberous sclerosis syndrome no assertion provided curation

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