ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) (rs137854329)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000043104 SCV000967768 pathogenic Tuberous sclerosis syndrome 2017-12-18 criteria provided, single submitter clinical testing The p.Glu1528X variant in TSC2 has been previously reported in 1 individual with tuberous sclerosis complex (TSC; Tuberous Sclerosis Project, http://tsc-project .partners.org/index.htm). It was absent from large population studies, though th e ability of these studies to accurately detect indels may be limited. This nons ense variant is a result of a duplication of one base pair at position 4581, whi ch creates a premature termination codon at amino acid position 1528. This alter ation is then predicted to lead to a truncated or absent protein. Heterozygous l oss of function of the TSC2 gene is an established disease mechanism in TSC. In summary, this variant meets criteria to be classified as pathogenic for TSC in a n autosomal dominant manner based upon presence in an affected individual, absen ce from controls, and predicted impact to the protein. ACMG/AMP Criteria applied : PVS1, PM2, PS4_Supporting (Richards 2015).
Tuberous sclerosis database (TSC2) RCV000043104 SCV000066903 not provided Tuberous sclerosis syndrome no assertion provided curation

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