ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) (rs1131691602)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494472 SCV000582462 pathogenic not provided 2015-09-04 criteria provided, single submitter clinical testing The R120X nonsense variant in the TSC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. 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. Although this variant has not been reported previously to our knowledge, we interpret it as pathogenic.
Invitae RCV000689112 SCV000816750 pathogenic Tuberous sclerosis 2 2018-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg120*) 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 not been reported in the literature in individuals with TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 429805). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.

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