ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)

dbSNP: rs45517298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001852903 SCV002129682 pathogenic Tuberous sclerosis 2 2021-05-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1192*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with TSC2-related conditions (PMID: 10205261). ClinVar contains an entry for this variant (Variation ID: 50109).
Tuberous sclerosis database (TSC2) RCV000043376 SCV000067182 not provided Tuberous sclerosis syndrome no assertion provided curation

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