ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.832dup (p.His278fs)

dbSNP: rs137854020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698426 SCV000827087 pathogenic Tuberous sclerosis 2 2018-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His278Profs*60) 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 reported in an individual affected with tuberous sclerosis complex (PMID: 9463313). This variant is also known as p.277Cysfs337X in the literature. ClinVar contains an entry for this variant (Variation ID: 49448). 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) RCV000042708 SCV000066503 not provided Tuberous sclerosis syndrome no assertion provided curation

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