ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) (rs118203732)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627233 SCV000748223 pathogenic not provided 2018-02-05 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the TSC1 gene. The Q906X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q906X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of tuberous sclerosis complex.
Center for Human Genetics, Inc RCV000660339 SCV000782394 pathogenic Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042246 SCV000066033 not provided Tuberous sclerosis syndrome no assertion provided curation

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