ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter) (rs118203661)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414029 SCV000491178 pathogenic not provided 2018-12-05 criteria provided, single submitter clinical testing The Q743X nonsense variant in the TSC1 gene has been reported previously in association with tuberous sclerosis complex (TSC1 LOVD Database; van Slegtenhorst et al., 1997; Kwiatkowska et al., 1998; Dabora et al., 2001). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, 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.
Tuberous sclerosis database (TSC1) RCV000042172 SCV000065958 not provided Tuberous sclerosis syndrome no assertion provided curation

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