ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.491G>A (p.Trp164Ter) (rs118203387)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189835 SCV000243488 pathogenic not provided 2014-03-06 criteria provided, single submitter clinical testing p.Trp164Stop (TGG>TAG): c.491 G>A in exon 6 of the TSC1 gene (NM_000368.4). The Trp164Stop nonsense mutation in the TSC1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It 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. Although this mutation has not been reported previously to our knowledge, the presence of Trp164Stop is consistent with a diagnosis of a TSC1-related disorder. The variant is found in EPILEPSY panel(s).
Tuberous sclerosis database (TSC1) RCV000042297 SCV000066086 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation

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