ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1599+4A>C

dbSNP: rs2151192256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV002274867 SCV002559889 pathogenic Tuberous sclerosis 2 2022-08-01 criteria provided, single submitter clinical testing This base pair substitution is not found in the general population. Targeted RNA-seq of TSC2 showed aberrant splicing with activating the cryptic splice donor site, and estimated to protein-truncating mutation.

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