ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) (rs780542125)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455175 SCV000540521 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported in 1 Marfan proband
Fulgent Genetics,Fulgent Genetics RCV000765720 SCV000897087 uncertain significance Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Hereditary nonpolyposis colorectal cancer type 6 2018-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000455175 SCV001157799 uncertain significance not specified 2018-09-03 criteria provided, single submitter clinical testing The TGFBR2 c.569G>A; p.Arg190His variant (rs780542125), has been previously observed in an individual in included in a cohort of Marfan patients (Chung 2009) and a different individual with single suture craniosynostosis (Clarke 2018). This variant is also found in the general population with an overall allele frequency of 0.005% (12/245,970 alleles) in the Genome Aggregation Database. The arginine at codon 190 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, based on the available information, the clinical significance of this variant is uncertain. References: Chung BH et al. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. Am J Med Genet A. 2009 Jul;149A(7):1452-9. Clarke CM et al. Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290-300.
Illumina Clinical Services Laboratory,Illumina RCV001149562 SCV001310521 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color RCV001180574 SCV001345533 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-09-23 criteria provided, single submitter clinical testing

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