ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) (rs45517225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000407429 SCV000329783 pathogenic not provided 2016-04-07 criteria provided, single submitter clinical testing The Y776X nonsense variant in the TSC2 gene has been reported previously in an individual with tuberous sclerosis complex (TSC); this individual also had a missense variant identified in a TSC gene (Dabora et al., 2001; TSC2 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret Y776X as a pathogenic variant.
Tuberous sclerosis database (TSC2) RCV000042941 SCV000066738 not provided Tuberous sclerosis syndrome no assertion provided curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV001194681 SCV001364427 pathogenic Tuberous sclerosis 2 2020-06-11 no assertion criteria provided clinical testing

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