ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) (rs2229102)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037740 SCV000061402 benign not specified 2007-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000037740 SCV000168939 benign not specified 2013-04-15 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.
PreventionGenetics,PreventionGenetics RCV000037740 SCV000309523 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617143 SCV000317399 benign Cardiovascular phenotype 2015-09-09 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
Illumina Clinical Services Laboratory,Illumina RCV000393230 SCV000442868 benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303261 SCV000442869 benign Loeys-Dietz syndrome 2 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000248566 SCV000442870 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000248566 SCV000559160 benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587320 SCV000698200 benign not provided 2016-04-07 criteria provided, single submitter clinical testing Variant summary: The c.999A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. However, these predictions are not confirmed by experimental studies. This variant is found in 926/121218 control chromosomes (including 32 homozygotes) at a frequency of 0.0076391, which is about 1630 times greater than the maximal expected frequency of a pathogenic allele (0.0000047) in this gene, suggesting this variant is benign. In addition, multiple clinical laboratories classified this variant as benign. Taken together, this variant has been classified as Benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000248566 SCV000901784 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-19 criteria provided, single submitter clinical testing
Color RCV000248566 SCV000910834 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037740 SCV001158638 benign not specified 2018-08-23 criteria provided, single submitter clinical testing

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