ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3833dup (p.Tyr1279fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004586425 SCV005077784 likely pathogenic Tuberous sclerosis 2 2024-06-20 criteria provided, single submitter clinical testing The c.3833dup variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature with TSC2-related conditions nor reported to the clinical databases like Human Genome Mutation Database (HGMD), ClinVar or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious. This variant causes frameshift at the 1279th position of the original transcript that creates a premature translational stop signal at the altered transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA.

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