ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3610+1G>A (rs45517299)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045249 SCV001209087 pathogenic Tuberous sclerosis 2 2019-01-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 30 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 10942116, 11112665, 23389244). This variant is also known as c.3628+1G>A, IVS29+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 49264). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV001045249 SCV001424965 pathogenic Tuberous sclerosis 2 2020-07-10 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042523 SCV000066314 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000042523 SCV000083494 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055354 SCV000083574 not provided Lymphangiomyomatosis no assertion provided curation

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