ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.737+1G>T (rs118203438)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498128 SCV000590268 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The c.737+1 G>T splice site variant in the TSC1 gene destroys the canonical splice donor site in intron 8. 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. The c.737+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, many other splice site variants have been reported in the Human Gene Mutation Database in association with tuberous sclerosis (Stenson et al., 2014). Although the c.737+1 G>T pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of tuberous sclerosis in this individual.
Tuberous sclerosis database (TSC1) RCV000055031 SCV000083249 not provided Tuberous sclerosis syndrome no assertion provided curation

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