ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.984C>T (p.His328=) (rs193922666)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000199728 SCV000053222 benign not specified 2018-02-26 criteria provided, single submitter clinical testing Variant summary: TGFBR2 c.984C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00014 in 276770 control chromosomes. The observed variant frequency is approximately 45 fold of the estimated maximal expected allele frequency for a pathogenic variant in TGFBR2 causing Loeys-Dietz Syndrome phenotype (3.1e-06), suggesting that the variant is benign. To our knowledge, no occurrence of c.984C>T in individuals affected with Loeys-Dietz Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as Benign.
GeneDx RCV000199728 SCV000250915 benign not specified 2015-03-02 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 RCV000617149 SCV000317800 likely benign Cardiovascular phenotype 2017-02-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000250810 SCV000442865 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030551 SCV000442866 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361254 SCV000442867 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000250810 SCV000776723 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000250810 SCV000913666 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090474 SCV001246045 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing

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