ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) (rs886041919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000403179 SCV000330722 pathogenic not provided 2016-07-29 criteria provided, single submitter clinical testing The Q1532X nonsense variant in the TSC2 gene has been reported multiple times previously inassociation with TSC (TSC2 LOVD). This pathogenic variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000550192 SCV000644555 pathogenic Tuberous sclerosis 2 2017-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1532 (p.Gln1532*) of the TSC2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has been reported in individuals affected with tuberous sclerosis in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.

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