ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) (rs140271276)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860855 SCV001001022 benign Telangiectasia, hereditary hemorrhagic, type 5 2020-11-21 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000860855 SCV001439477 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2018-01-01 criteria provided, single submitter research BS1 + BP2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000860855 SCV001474228 uncertain significance Telangiectasia, hereditary hemorrhagic, type 5 2019-09-13 criteria provided, single submitter clinical testing The GDF2 c.776A>G; p.Asn259Ser variant (rs140271276) is reported in the literature in an individual with idiopathic pulmonary arterial hypertension (Wang 2019). This variant is found in the general population with an overall allele frequency of 0.04% (127/282806 alleles), with an increased frequency of 0.5% in Ashkenazi Jewish (Genome Aggregation Database). The asparagine at codon 259 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant may be deleterious. However, due to limited information, the clinical significance of this variant is uncertain at this time. REFERENCES Wang XJ et al. Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension. Eur Respir J. 2019 Mar 14;53(3). pii: 1801609.
GeneDx RCV001569431 SCV001793505 likely benign not provided 2021-03-19 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 32573726, 30578397)

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