ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter) (rs118203673)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523745 SCV000617402 pathogenic not provided 2017-04-24 criteria provided, single submitter clinical testing The Q765X nonsense variant in the TSC1 gene has been reported multiple times previously inassociation with tuberous sclerosis complex (TSC) (TSC1 LOVD Database; Chatterjee et al., 2015;Young et al., 1998, Kwiatkowski et al., 2015). This pathogenic variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense mediated mRNA decay. TheQ765X variant is not observed in large population cohorts (Lek et al., 2016; 1000 GenomesConsortium et al., 2015; Exome Variant Server).
Tuberous sclerosis database (TSC1) RCV000042185 SCV000065971 not provided Tuberous sclerosis syndrome no assertion provided curation

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