ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1281C>A (p.Ile427=) (rs45478892)

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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 RCV000163377 SCV000213917 likely benign Hereditary cancer-predisposing syndrome 2014-11-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000205713 SCV000677534 benign Tuberous sclerosis 2 2017-05-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429983 SCV000511452 benign not provided 2016-07-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174491 SCV000225800 likely benign not specified 2014-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000174491 SCV000169107 benign not specified 2013-10-23 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 RCV000174491 SCV000597591 likely benign not specified 2015-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042948 SCV000395574 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000429983 SCV000697459 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The c.1281C>A (p.Ile427=) 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 0.0022 (201/93004 chrs tested), predominantly in individuals of European descent (0.0032; 161/50172). 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 RCV000205713 SCV000261678 benign Tuberous sclerosis 2 2018-01-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174491 SCV000305141 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042948 SCV000066745 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055284 SCV000083504 not provided Lymphangiomyomatosis no assertion provided curation

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