ClinVar Miner

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

dbSNP: rs1131691602
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Total submissions: 3
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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 2018-01-11 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. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). 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). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV000689112 SCV002040914 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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