ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter)

dbSNP: rs1057520759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434569 SCV000517326 pathogenic not provided 2015-06-15 criteria provided, single submitter clinical testing The E1243X variant in the TSC2 is predicted to cause loss of normal protein function either through protein truncation or nonsense mRNA decay. Although this variant has notbeen reported to our knowledge, several nonsense variants at nearby codons have been reported in association with tuberous sclerosis, and therefore the E1243X variant is considered pathogenic.

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