ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) (rs45455296)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470698 SCV000544319 pathogenic Tuberous sclerosis 2 2016-05-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1616 (p.Gln1616*) of the TSC2 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in TSC2 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with tuberous sclerosis complex (PMID: 16981987). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042586 SCV000066380 not provided Tuberous sclerosis syndrome no assertion provided curation

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