ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3086T>C (p.Met1029Thr)

dbSNP: rs1057522974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429934 SCV000530198 uncertain significance not provided 2020-10-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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