ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1959dup (p.Gln654fs)

dbSNP: rs118203603
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201178 SCV000255853 pathogenic Tuberous sclerosis 1 2012-08-29 criteria provided, single submitter clinical testing
Invitae RCV000201178 SCV000965513 pathogenic Tuberous sclerosis 1 2021-01-13 criteria provided, single submitter clinical testing Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 16981987) and in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln654Thrfs*34) in the TSC1 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000201178 SCV002040919 pathogenic Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000201178 SCV002581570 pathogenic Tuberous sclerosis 1 2022-03-16 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042108 SCV000065892 not provided Tuberous sclerosis syndrome no assertion provided curation

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