ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2031C>T (p.Pro677=) (rs45517208)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163346 SCV000213880 likely benign Hereditary cancer-predisposing syndrome 2014-10-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000203878 SCV000677538 benign Tuberous sclerosis 2 2017-05-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000588605 SCV000844563 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175404 SCV000226880 likely benign not specified 2015-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000175404 SCV000169120 benign not specified 2012-12-13 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.
Genetic Services Laboratory, University of Chicago RCV000175404 SCV000249206 uncertain significance not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042878 SCV000395598 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588605 SCV000697462 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The c.2031C>T (p.Pro677=) in TSC2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.003 (156/47170 chrs tested), predominantly in individuals of European descent (0.006; 136/24126). This frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.0000068). The variant of interest has been cited as Benign/Likely Benign by multiple reputable databases/clinical laboratories. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
Invitae RCV000203878 SCV000262258 benign Tuberous sclerosis 2 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000175404 SCV000711364 benign not specified 2016-05-20 criteria provided, single submitter clinical testing p.Pro677Pro in exon 19 of TSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.5% (136/24126) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs45517208).
PreventionGenetics RCV000175404 SCV000305164 likely benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042878 SCV000066674 not provided Tuberous sclerosis syndrome no assertion provided curation

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