ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)

dbSNP: rs45471596
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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 RCV001852905 SCV002241912 pathogenic Tuberous sclerosis 2 2021-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 10533066). ClinVar contains an entry for this variant (Variation ID: 50145). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser554*) 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).
Tuberous sclerosis database (TSC2) RCV000043413 SCV000067219 not provided Tuberous sclerosis syndrome no assertion provided curation

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