ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) (rs118203549)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578889 SCV000681186 pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing The Q527X nonsense variant in the TSC1 gene has been reported previously as a de novo variant inmultiple unrelated patients with tuberous sclerosis complex (TSC1 LOVD). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, this variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of Q527X is consistent with the diagnosis of TSC in this individual.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660336 SCV000782386 likely pathogenic Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042051 SCV000065834 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000054972 SCV000083190 not provided Urinary bladder cancer no assertion provided curation

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