ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter) (rs118203685)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793708 SCV000933074 pathogenic Tuberous sclerosis 1 2018-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu788*) in the TSC1 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 observed in an individual with tuberous sclerosis complex (PMID: 9242607). ClinVar contains an entry for this variant (Variation ID: 48946). This variant is also known as c.2583G>T, E788X  in the literature. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042197 SCV000065983 not provided Tuberous sclerosis syndrome no assertion provided curation

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