ClinVar Miner

Submissions for variant NM_003238.5(TGFB2):c.272G>A (p.Arg91His) (rs10482721)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196473 SCV000250833 benign not specified 2016-11-30 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.
Invitae RCV000986553 SCV000287901 benign Holt-Oram syndrome 2020-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000196473 SCV000309500 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001000016 SCV000354237 benign Loeys-Dietz syndrome 4 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586534 SCV000698188 benign not provided 2017-07-14 criteria provided, single submitter clinical testing Variant summary: The TGFB2 c.272G>A (p.Arg91His) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict damaging outcome for this variant, however in silico predictions are not definitive. This variant was found in 519/98396 control chromosomes (4 homozygotes) from ExAC at a frequency of 0.0052746, which is approximately 422 times the estimated maximal expected allele frequency of a pathogenic TGFB2 variant (0.0000125), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories (via ClinVar) have classified this variant as benign/likely benign. To our knowledge, the variant of interest has not been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Ambry Genetics RCV000621813 SCV000738369 likely benign Cardiovascular phenotype 2018-06-11 criteria provided, single submitter clinical testing Other strong data supporting benign classification
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000016 SCV000884682 benign Loeys-Dietz syndrome 4 2018-10-10 criteria provided, single submitter clinical testing
Mendelics RCV000986553 SCV001135572 likely benign Holt-Oram syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000586534 SCV001147685 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171173 SCV001333865 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-02 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000196473 SCV001433467 likely benign not specified 2020-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Erasmus University Medical Center RCV000508622 SCV000328907 uncertain significance Hirschsprung disease 1 2016-11-18 no assertion criteria provided clinical testing

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