ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) (rs727504406)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154587 SCV000204260 uncertain significance not specified 2010-09-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic.
Color RCV000777996 SCV000914103 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000154587 SCV000920293 benign not specified 2017-09-11 criteria provided, single submitter clinical testing Variant summary: The TGFBR2 c.464C>T (p.Thr155Ile) variant located in the transforming growth ffactor beta receptor 2 ectodomain (via InterPro) involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a benign outcome for this variant. This variant was found in 35/246096 control chromosomes, predominantly observed in the South Asian subpopulation at a frequency of 0.001137 (35/30782). This frequency is about 364 times the estimated maximal expected allele frequency of a pathogenic TGFBR2 variant (0.0000031), suggesting this is likely a benign polymorphism found primarily in population(s) of South Asian origin. A publication, Lerner-Ellis_2014, cites the variant in one affected individual with limited information (no cosegregation data). A clinical diagnostic laboratory classified this variant as uncertain significance, however, this classification occurred prior to the availablity of gnomAD or ExAC. Therefore, the variant of interest has been classified as "benign."
Invitae RCV000777996 SCV001021156 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing

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