ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) (rs397514862)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413404 SCV000491177 pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing The Q797X nonsense variant in the TSC1 gene has been reported multiple times previously in association with tuberous sclerosis complex (Hirfanoglu and Gupta, 2010; Jang et al., 2012; TSC1 LOVD). The Q797X 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.
Invitae RCV000551066 SCV000641567 pathogenic Tuberous sclerosis 1 2017-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 797 (p.Gln797*) 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 individuals affected with tuberous sclerosis complex (PMID: 20399389, 22490766, 24649456). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000055004 SCV000083222 not provided Tuberous sclerosis syndrome no assertion provided curation

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