ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs767252128
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415953 SCV000493548 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV001079272 SCV000544511 likely benign Tuberous sclerosis 2 2023-12-15 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 likely benign Hereditary cancer-predisposing syndrome 2022-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001079272 SCV002039649 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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