ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)

dbSNP: rs45517226
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760361 SCV000890223 pathogenic not provided 2018-11-28 criteria provided, single submitter clinical testing The Q785X nonsense variant in the TSC2 gene has been reported previously in an individual with a clinical diagnosis of tuberous sclerosis complex (Choi et al., 2006). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q785X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the Q785X variant is considered a pathogenic variant.
Athena Diagnostics RCV000760361 SCV004229361 pathogenic not provided 2023-08-11 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual, including a de novo case, with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV003512001 SCV004296654 pathogenic Tuberous sclerosis 2 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln785*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 16554133). ClinVar contains an entry for this variant (Variation ID: 50143). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043411 SCV000067217 not provided Tuberous sclerosis syndrome no assertion provided curation

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