ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1119+129G>T

dbSNP: rs1001221917
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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 RCV002267081 SCV001366136 pathogenic Tuberous sclerosis 2 2022-07-19 criteria provided, single submitter clinical testing NC_000016.10:g.2060942G>T (NM_000548.5:c.1119+129G>T). This intronic substitiution create a branch point consensus sequernce as (G)TGAT to (T)TGAT. In mRNA level of peripheral blood mononuclear cell of the patient, insertion of a 87 bp cassette exon betweeen exon 11 and exon 12 was observed as NM_000548.5:r.1119_1120ins(1119+140_1119+226). And in protein level, the consequences are estimated a frameshift and stop gain as NP_000539.2:p.(Thr374TrpfsTer12).

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