ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1997+1G>A (rs118203610)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189849 SCV000243502 pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The c.1997+1 G>A splice site variant in the TSC1 gene has been reported multiple times previously in association with tuberous sclerosis complex (TSC) (Au et al., 2007; TSC1 LOVD). This pathogenic variant destroys the canonical donor site in intron 15. 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.
Tuberous sclerosis database (TSC1) RCV000042114 SCV000065899 not provided Tuberous sclerosis syndrome no assertion provided curation

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