ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1361+2T>C

dbSNP: rs397515301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003985724 SCV004801819 likely pathogenic Tuberous sclerosis 2 criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates an alteration of the canonical splice site c.1361+2T>C in the TSC2 gene. The variant was observed in heterozygous state in an individual affected with rhabdomyoma, polycystic kidneys, lissencephaly, corpus callosum dysgenesis, and supraventricular arrhythmia. Loss-of-function variants are reported in patients with Tuberous sclerosis-2, 613254. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.
Tuberous sclerosis database (TSC2) RCV000055366 SCV000083587 not provided Tuberous sclerosis syndrome no assertion provided curation

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