ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) (rs112215250)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152014 SCV000200582 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000152014 SCV000250957 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239196 SCV000296974 likely benign Loeys-Dietz syndrome 2015-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617153 SCV000318116 benign Cardiovascular phenotype 2016-04-06 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 RCV000337404 SCV000442904 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000241715 SCV000442905 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094793 SCV000442906 likely benign Loeys-Dietz syndrome 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000241715 SCV000559155 benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587520 SCV000698197 benign not provided 2017-04-17 criteria provided, single submitter clinical testing Variant summary: The TGFBR2 c.1657T>A (p.Ser553Thr) variant involves the alteration of a conserved nucleotide and 3/5 in silico tools predict a damaging outcome. This variant was found in 170/121354 control chromosomes (2 homozygotes) at a frequency of 0.0014009, which is approximately 1121 times the estimated maximal expected allele frequency of a pathogenic TGFBR2 variant (0.0000013), suggesting this variant is likely a benign polymorphism. Multiple publications have cited the variant in affected individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant with conflicting classifications "uncertain significance" or "likely benign." However, it needs to be noted that many databases/clinical diagnostic laboratories that classified the variant as "uncertain significance" were performed before ExAC data was availalbe. In addition, ClinVar-Partners does state that the variant did not segregate with disease in one family. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152014 SCV000703465 benign not specified 2016-12-09 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680614 SCV000808044 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Color RCV000241715 SCV000910746 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-15 criteria provided, single submitter clinical testing
Mendelics RCV000337404 SCV001136358 benign Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148891 SCV000190637 likely benign Congenital aneurysm of ascending aorta 2014-06-01 no assertion criteria provided research

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