ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.325C>T (p.Gln109Ter) (rs397514774)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823533 SCV000964394 pathogenic Tuberous sclerosis 1 2018-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln109*) 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 individuals affected with tuberous sclerosis complex (PMID: 29932062). ClinVar contains an entry for this variant (Variation ID: 64701). 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) RCV000054876 SCV000083091 not provided Tuberous sclerosis syndrome no assertion provided curation

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