ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.260T>G (p.Leu87Ter) (rs397514776)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000305404 SCV000330557 pathogenic not provided 2016-05-27 criteria provided, single submitter clinical testing The L87X nonsense variant in the TSC1 gene has been reported previously in association with tuberous sclerosis complex (TSC1 LOVD; Sancak et al., 2005). The L87X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Tuberous sclerosis database (TSC1) RCV000054878 SCV000083093 not provided Tuberous sclerosis syndrome no assertion provided curation

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