ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) (rs137854154)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130880 SCV000185785 benign Hereditary cancer-predisposing syndrome 2015-08-20 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Other data supporting benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Invitae RCV000989417 SCV000261891 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122206 SCV000336111 likely benign not specified 2015-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042922 SCV000395580 likely benign Tuberous sclerosis syndrome 2018-02-12 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000122206 SCV000540600 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.5% (46/8536) European chromosomes; ClinVar: 2 labs classify as LB. 3/5 pubs describe as nonpathogenic.
Mendelics RCV000989417 SCV001139739 likely benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000204918 SCV001150690 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042922 SCV000066719 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122206 SCV000086427 not provided not specified 2013-09-19 no assertion provided reference population
CSER _CC_NCGL, University of Washington RCV000042922 SCV000190665 likely benign Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000989417 SCV001190850 benign Tuberous sclerosis 2 2020-02-05 no assertion criteria provided clinical testing

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