ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) (rs118203537)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254845 SCV000322243 pathogenic not provided 2018-12-31 criteria provided, single submitter clinical testing The R500X nonsense variant in the TSC1 gene has been reported multiple times in association with tuberous sclerosis complex (TSC) (TSC1 LOVD Database; van Slegtenhorst et al., 1999; Tyburczy et al., 2015; Sancak et al., 2005; Dabora et al., 1998; Tan et al., 2017). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R500X variant is not observed in large population cohorts (Lek et al., 2016).
Invitae RCV000474016 SCV000552328 pathogenic Tuberous sclerosis 1 2018-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 500 (p.Arg500*) of the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic. This particular variant has been reported in the literature in several individuals affected with tuberous sclerosis complex (PMID: 10227394, 26540169, 15798777, 10533067). This variant is also known as 1719C>T R500X in the literature. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042038 SCV000065821 not provided Tuberous sclerosis syndrome no assertion provided curation

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