ClinVar Miner

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

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Total submissions: 3
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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.
Invitae RCV001048099 SCV001212088 pathogenic Tuberous sclerosis 2 2019-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1665*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with tuberous sclerosis and has been reported to be de novo in at least one individual (PMID: 28087349, 9302281). This variant is also known as 5011C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 49340). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042600 SCV000066394 not provided Tuberous sclerosis syndrome no assertion provided curation

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