ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) (rs45517179)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517734 SCV000615884 pathogenic not provided 2016-09-21 criteria provided, single submitter clinical testing
Invitae RCV000013204 SCV000822814 pathogenic Tuberous sclerosis 2 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg505*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with tuberous sclerosis complex (PMID: 8824881, 16981987, 10205261, 9463313, 16114042, 11112665). ClinVar contains an entry for this variant (Variation ID: 12396). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768350 SCV000899048 pathogenic Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2017-12-04 criteria provided, single submitter clinical testing TSC2 NM_000548.4 exon 15 p.Arg505* (c.1513C>T): This variant has been reported in the literature in at least 10 individuals with Tuberous sclerosis (Wilson 1996 PMID:8824881, Jones 1999 PMID:10205261, Mayer 1999 PMID:10533066, Dabora 2001 PMID:11112665, Rendtorff 2005 PMID:16114042, Hung 2006 PMID:16981987, Au 2007 PMID:17304050). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop at this codon which results 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.
OMIM RCV000013204 SCV000033451 pathogenic Tuberous sclerosis 2 1999-12-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC2) RCV000043399 SCV000067205 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055539 SCV000083762 not provided Lymphangiomyomatosis no assertion provided curation

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