ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) (rs118203728)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491065 SCV000579944 pathogenic Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000538905 SCV000641592 pathogenic Tuberous sclerosis 1 2017-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 898 (p.Gln898*) of the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic. This particular variant has been reported in the literature in a family affected with tuberous sclerosis (PMID: 9803264). This variant has also been reported in individuals affected with tuberous sclerosis in the Leiden Open-source Variation Database (PMID: 21520333). This variant is also known as  C2913T, Q898X in the literature. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042243 SCV000066029 not provided Tuberous sclerosis syndrome no assertion provided curation

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