ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-1G>A (rs45517404)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472098 SCV000544399 pathogenic Tuberous sclerosis 2 2019-04-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 40 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic. This particular variant has been reported in the literature in individuals with tuberous sclerosis complex (PMID: 11112665). For these reasons, this variant has been classified as Pathogenic.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027854 SCV001190478 pathogenic Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2019-09-16 criteria provided, single submitter clinical testing TSC2 NM_000548.4 exon 41 c.5161-1G>A: This variant has been reported in the literature in at least two individuals with a clinical diagnosis of Tuberous Sclerosis (Dabora 2001 PMID:11112665). This variant is not present in large control databases but is present in ClinVar (Variation ID:49943). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant alters the consensus splice sequence (+/- 1,2) which is predicted to result in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene (Rosset 2017 PMID:28222202). In summary, this variant is classified as pathogenic based on the data above.
Tuberous sclerosis database (TSC2) RCV000043210 SCV000067011 not provided Tuberous sclerosis syndrome no assertion provided curation

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