ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) (rs45517148)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497801 SCV000589549 pathogenic not provided 2017-06-20 criteria provided, single submitter clinical testing The E366X nonsense variant in the TSC2 gene has been reported multiple times previously in association with TSC (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. The E366X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
OMIM RCV000055263 SCV000033456 pathogenic Lymphangiomyomatosis 2000-05-23 no assertion criteria provided literature only
Tuberous sclerosis database (TSC2) RCV000042986 SCV000066784 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055263 SCV000083482 not provided Lymphangiomyomatosis no assertion provided curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV001194675 SCV001364416 pathogenic Tuberous sclerosis 2 2020-06-11 no assertion criteria provided clinical testing

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