ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)

dbSNP: rs137854359
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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 RCV000201021 SCV000255917 pathogenic Tuberous sclerosis 2 2013-06-10 criteria provided, single submitter clinical testing
Invitae RCV000201021 SCV001417430 pathogenic Tuberous sclerosis 2 2019-11-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has been observed in individual(s) with tuberous sclerosis complex (PMID: 10735580). It is also known as 570insA in the literature. ClinVar contains an entry for this variant (Variation ID: 50038). This sequence change creates a premature translational stop signal (p.Tyr190*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000201021 SCV002040917 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043304 SCV000067110 not provided Tuberous sclerosis syndrome no assertion provided curation

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