ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)

dbSNP: rs45517371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000268236 SCV000329789 pathogenic not provided 2016-10-13 criteria provided, single submitter clinical testing The W1610X pathogenic variant in the TSC2 gene has been reported in an infant with cardiac rhabdomyomas and cerebral subependymal tubers (Chen et al., 2006). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W1610X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret W1610X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513619 SCV003443422 pathogenic Tuberous sclerosis 2 2022-04-13 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: 49323). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 16877242, 29932062, 32313033). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1610*) 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) RCV000042583 SCV000066377 not provided Tuberous sclerosis syndrome no assertion provided curation

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