ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)

dbSNP: rs137854399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225142 SCV001397381 pathogenic Tuberous sclerosis 2 2023-12-07 criteria provided, single submitter clinical testing This variant, c.4823_4825del, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Tyr1608del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex and/or tuberous sclerosis complex (PMID: 11112665, 15798777, 21520333, 22867869, 25782670; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 49833). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003318547 SCV004022834 pathogenic not provided 2023-07-26 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22867869, 15798777, 25782670, Almeida2019[thesis], 11112665)
Tuberous sclerosis database (TSC2) RCV000043099 SCV000066898 not provided Tuberous sclerosis syndrome no assertion provided curation

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