ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) (rs56105708)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125486 SCV000168938 benign not specified 2013-07-02 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.
Invitae RCV000228364 SCV000287924 benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617158 SCV000319179 benign Cardiovascular phenotype 2016-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352880 SCV000442844 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228364 SCV000442845 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313129 SCV000442846 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.
Integrated Genetics/Laboratory Corporation of America RCV000589501 SCV000698198 benign not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: The TGFBR2 c.571G>A (p.Val191Ile) variant involves the alteration of a conserved nucleotide, resulting in a missense change. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 196 of 121384 control chromosomes (2 homozygotes) of all ethnicities sampled in ExAC, but was predominantly observed in the East Asian subpopulation at a frequency of 0.018741 (162/8644; 2 homozygotes). This frequency is about 5997 times the estimated maximal expected allele frequency of a pathogenic TGFBR2 variant (0.0000031), strongly suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant is referred to as a polymorphism in the literature and has been used as a SNP in an association study. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000228364 SCV000901781 benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-02 criteria provided, single submitter clinical testing
Color RCV000228364 SCV000903047 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing

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