ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter)

dbSNP: rs45467993
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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 RCV001852886 SCV002245543 pathogenic Tuberous sclerosis 2 2021-03-29 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.Tyr1678*) 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 nonsense change has been observed in individual(s) with tuberous sclerosis (PMID: 15595939, Invitae). ClinVar contains an entry for this variant (Variation ID: 49437).
Tuberous sclerosis database (TSC2) RCV000042697 SCV000066492 not provided Tuberous sclerosis syndrome no assertion provided curation

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