ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) (rs45505895)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189917 SCV000243578 likely benign not specified 2012-12-18 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000189917 SCV000270957 likely benign not specified 2015-10-12 criteria provided, single submitter clinical testing p.Ala1141Thr in exon 30 of TSC2: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, five mammals (squirrel monkey, pig, ferret, hedgehog,and tasmanian devil) have a threonine (T) at this position. Additionally, it has been identified in 0 .6% (50/8590) of East Asian chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org, dbSNP rs45505895).
Invitae RCV000989430 SCV000285346 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042517 SCV000395626 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567355 SCV000675474 likely benign Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing In silico models in agreement (benign);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Subpopulation frequency in support of benign classification
Mendelics RCV000989430 SCV001139753 benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042517 SCV000066308 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000042517 SCV000190668 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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