ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5160+2T>C (rs397515170)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579195 SCV000681376 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing The c.5160+2 T>C splice site variant in the TSC2 gene destroys the canonical splice donor site in 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. Although this pathogenic variant has not been previously reported to our knowledge, different splice site variants at the same canonical splice donor site have been reported previously in association with tuberous sclerosis complex (TSC) (Stenson et al., 2014).
Tuberous sclerosis database (TSC2) RCV000055455 SCV000083676 not provided Tuberous sclerosis syndrome no assertion provided curation
Baylor Genetics RCV000722175 SCV000854628 pathogenic Tuberous sclerosis 2 2018-11-18 no assertion criteria provided clinical testing

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