ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) (rs548002938)

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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 RCV000574453 SCV000675381 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000189813 SCV000243464 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing This variant is denoted TSC1 c.1721C>G at the cDNA level, p.Thr574Ser (T574S) at the protein level, and results in the change of a Threonine to a Serine (ACT>AGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TSC1 Thr574Ser was observed at an allele frequency of 0.007% (9/126414) in individuals of European (Non-Finnish) ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether TSC1 Thr574Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000462963 SCV000552381 benign Tuberous sclerosis 1 2017-11-30 criteria provided, single submitter clinical testing

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