ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) (rs45474795)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122234 SCV000169149 benign not specified 2013-04-11 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.
Ambry Genetics RCV000163285 SCV000213813 benign Hereditary cancer-predisposing syndrome 2014-12-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other data supporting benign classification
Genetic Services Laboratory, University of Chicago RCV000122234 SCV000249207 likely benign not specified 2015-03-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122234 SCV000305217 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054858 SCV000395650 benign Tuberous sclerosis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000468567 SCV000556595 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000468567 SCV000677547 benign Tuberous sclerosis 2 2017-05-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034658 SCV000884754 benign not provided 2018-01-17 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034658 SCV000043541 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Tuberous sclerosis database (TSC2) RCV000054858 SCV000066566 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055296 SCV000083516 not provided Autism spectrum disorder no assertion provided curation
ITMI RCV000122234 SCV000086457 not provided not specified 2013-09-19 no assertion provided reference population

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