ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)

dbSNP: rs45469896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713913 SCV000844557 pathogenic not provided 2018-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382877 SCV001581832 pathogenic Tuberous sclerosis 2 2022-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49656). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 16981987). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln354*) 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).
Genome-Nilou Lab RCV001382877 SCV002040927 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042918 SCV000066714 not provided Tuberous sclerosis syndrome no assertion provided curation

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