ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) (rs142257684)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231616 SCV000285252 benign Tuberous sclerosis 2 2017-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000431368 SCV000528132 likely benign not specified 2018-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000564084 SCV000675476 likely benign Hereditary cancer-predisposing syndrome 2016-09-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000431368 SCV000711363 uncertain significance not specified 2016-07-28 criteria provided, single submitter clinical testing The p.Arg537Cys variant in TSC2 has not been previously reported in individuals with pulmonary disease but has been identified in 0.16% (17/10394) of African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs142257684). Computational prediction tools and conservation analysi s do not provide strong support for or against an impact to the protein. In summ ary, the clinical significance of the p.Arg537Cys variant is uncertain.
Tuberous sclerosis database (TSC2) RCV000055179 SCV000083397 not provided Tuberous sclerosis syndrome no assertion provided curation

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