ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) (rs140662877)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230654 SCV000287922 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000230654 SCV000317730 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000430304 SCV000519023 likely benign not specified 2017-01-13 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.
Integrated Genetics/Laboratory Corporation of America RCV000430304 SCV000920295 benign not specified 2018-05-29 criteria provided, single submitter clinical testing Variant summary: TGFBR2 c.1548G>A 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 276692 control chromosomes (gnomAD). The observed variant frequency is approximately 113-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in TGFBR2 causing Aortopathy phenotype (1.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1548G>A in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Multiple ClinVar submissions from clinical diagnostic laboratories cite the variant as "likely benign." Based on the evidence outlined above, the variant was classified as benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858396 SCV001153826 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Color RCV000230654 SCV001358815 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-30 criteria provided, single submitter clinical testing

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