ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2453_2455TCA[2] (p.Ile820del) (rs137854128)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201194 SCV000255885 likely pathogenic Tuberous sclerosis 2 2015-09-02 criteria provided, single submitter clinical testing
Invitae RCV000201194 SCV000544542 likely pathogenic Tuberous sclerosis 2 2019-02-04 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 22 of the TSC2 mRNA (c.2459_2461delTCA). This leads to the deletion of 1 amino acid residue in the TSC2 protein (p.Ile820del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals with tuberous sclerosis (TSC) and was observed to segregate with TSC in six individuals in one family (PMID: 21309039, 21520333). In a second family, it was observed in an infant with a solitary rhabdomyoma and a mildly affected parent, though neither had clinically confirmed TSC (PMID: 18302728). ClinVar contains an entry for this variant (Variation ID: 49592). Experimental studies have shown that this variant reduces the binding of TSC2 to TSC1 and disrupts TSC2 activity in vitro (PMID: 18302728, 21309039). For these reasons, this variant has been classified as Likely Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042853 SCV000066648 not provided Tuberous sclerosis syndrome 2011-04-06 no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000042853 SCV000066649 not provided Tuberous sclerosis syndrome no assertion provided curation

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