ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) (rs767252128)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415953 SCV000493548 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV001079272 SCV000544511 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000415953 SCV000619786 uncertain significance not provided 2017-08-04 criteria provided, single submitter clinical testing The R786C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R786C variant is observed in 5/65,144 (0.008%) alleles from individuals of European background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution does not occur within known functional domains of the tuberin protein, where many pathogenic missense variants have been identified (Northrup et al., 2011; Au et al., 2007).
Ambry Genetics RCV001015130 SCV001175933 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-05 criteria provided, single submitter clinical testing Insufficient evidence

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