ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=) (rs121918715)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000013327 SCV000678210 pathogenic Loeys-Dietz syndrome 2 2017-08-01 criteria provided, single submitter clinical testing TGFBR2 NM_001024847.2 exon7 p.Gln533Gln (c.1599G>A): This variant has been reported in the literature in 1 individual with clinical suspicion of Marfan/Loeys-Dietz syndrome (reported as Marfan Syndrome type 2), segregating with disease in 11 affected family members (reported as p.Gln508Gln, Mizguchi 2004 PMID:15235604). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant is "silent" and is not predicted to alter the amino acid, functional studies have indicated that this variant affects splicing (Mizguchi 2004 PMID:15235604). In summary, this variant is classified as pathogenic based on the data above (segregation studies, absence from controls, predicted impact to protein).
OMIM RCV000013327 SCV000033574 pathogenic Loeys-Dietz syndrome 2 2004-08-01 no assertion criteria provided literature only

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