ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) (rs45517171)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163304 SCV000213832 benign Hereditary cancer-predisposing syndrome 2015-09-24 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification;Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122205 SCV000226039 likely benign not specified 2014-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000122205 SCV000243542 likely benign not specified 2017-11-06 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.
Invitae RCV001080840 SCV000285242 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122205 SCV000305148 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042936 SCV000395581 likely benign Tuberous sclerosis syndrome 2018-03-12 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV000713914 SCV000844558 benign not provided 2017-12-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000713914 SCV001150691 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042936 SCV000066733 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122205 SCV000086426 not provided not specified 2013-09-19 no assertion provided reference population

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