ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) (rs118203384)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552517 SCV000641656 pathogenic Tuberous sclerosis 1 2017-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 149 (p.Gln149*) of the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic. This particular variant has been reported in individuals and families affected with tuberous sclerosis complex in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042294 SCV000066083 not provided Tuberous sclerosis syndrome no assertion provided curation

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