ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter)

dbSNP: rs1441428144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760616 SCV000890508 pathogenic not provided 2018-06-27 criteria provided, single submitter clinical testing The S1524X nonsense variant in the TSC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S1524X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of TSC in this individual.

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