ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4006-1G>A

dbSNP: rs1085307853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490195 SCV000577500 pathogenic not provided 2017-03-28 criteria provided, single submitter clinical testing The c.4006 -1 G>A splice site pathogenic variant in the TSC2 gene destroys the canonical splice acceptor site in intron 33. 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. Additionally, this variant has been reported in association with seizures in a child and parent (TSC2 LOVD). Furthermore, the c.4006 -1 G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
MGZ Medical Genetics Center RCV002289659 SCV002581220 pathogenic Tuberous sclerosis 2 2021-10-18 criteria provided, single submitter clinical testing

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