ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) (rs35766612)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249404 SCV000319520 likely benign Thoracic aortic aneurysm and aortic dissection 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
CSER_CC_NCGL; University of Washington Medical Center RCV000148893 SCV000190639 uncertain significance Congenital aneurysm of ascending aorta 2014-06-01 no assertion criteria provided research
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768109 SCV000899024 uncertain significance Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 2017-09-19 criteria provided, single submitter clinical testing TGFBR2 NM_003242.5 exon 4 p.Val387Met (c.1234G>A): This variant has been reported in the literature in at least 1 individual with suspicion of a syndromic aortopathy; however, the authors of this study suggested that this variant is likely benign (Lerner-Ellis 2014 PMID:24793577). In addition, this variant is present in 0.1% (251/125876) of European individuals, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs35766612). This variant is present in ClinVar (Variation ID:44651). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Human Genetics, Inc RCV000249404 SCV000782370 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000288248 SCV000692265 uncertain significance Loeys-Dietz syndrome 2016-05-17 no assertion criteria provided clinical testing
Color RCV000249404 SCV000902905 likely benign Thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000037728 SCV000250935 likely benign not specified 2017-11-22 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.
GenomeConnect, ClinGen RCV000509502 SCV000607367 not provided Loeys-Dietz syndrome; Dilatation of the thoracic aorta; Thoracic aortic dissection no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000288248 SCV000442880 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345619 SCV000442881 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000249404 SCV000442882 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000037728 SCV000918310 benign not specified 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV000249404 SCV000559156 likely benign Thoracic aortic aneurysm and aortic dissection 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037728 SCV000061390 likely benign not specified 2010-04-23 criteria provided, single submitter clinical testing

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