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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