ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3404del (p.His1135fs)

dbSNP: rs1064793464
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478220 SCV000566188 pathogenic not provided 2015-04-08 criteria provided, single submitter clinical testing The c.3404delA variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. Although this variant has not beenpreviously reported to our knowledge, we interpret it as pathogenic.

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