ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) (rs45517352)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190034 SCV000243707 pathogenic not provided 2014-11-20 criteria provided, single submitter clinical testing p.Gln1525Ter (CAG>TAG): c.4573 C>T in exon 36 of the TSC2 gene (NM_000548.3)The Q1525X nonsense mutation in the TSC2 gene has been reported previously in association with tuberous sclerosis (Langkau et al., 2002; TSC2 LOVD). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).
Invitae RCV001042432 SCV001206111 pathogenic Tuberous sclerosis 2 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1525*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This nonsense variant has been observed in individual(s) with tuberous sclerosis (PMID: 12111193). ClinVar contains an entry for this variant (Variation ID: 49306). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042565 SCV000066359 not provided Tuberous sclerosis syndrome no assertion provided curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV001042432 SCV001364439 pathogenic Tuberous sclerosis 2 2020-06-11 no assertion criteria provided clinical testing

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