ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) (rs45448101)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000302325 SCV000329790 pathogenic not provided 2016-07-08 criteria provided, single submitter clinical testing The Q1665X nonsense variant in the TSC2 gene has been reported multiple times previously in association with tuberous sclerosis complex (Maheshwar et al., 1997; Jones et al., 1999; TSC2 LOVD). The Q1665X 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 (TSC2) RCV000042600 SCV000066394 not provided Tuberous sclerosis syndrome no assertion provided curation

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