ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) (rs45517216)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484682 SCV000568288 pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing The Q732X nonsense variant in the TSC2 gene has been reported multiple times previously in association with TSC (Mayer et al., 1999; TSC2 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q732X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Invitae RCV000811066 SCV000951313 pathogenic Tuberous sclerosis 2 2018-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln732*) 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 several individuals affected with tuberous sclerosis (PMID: 10533066, 28968464). ClinVar contains an entry for this variant (Variation ID: 50118). 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) RCV000043385 SCV000067191 not provided Tuberous sclerosis syndrome no assertion provided curation

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