ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)

dbSNP: rs35129734
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000074346 SCV001001586 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2024-01-23 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000074346 SCV001439478 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2018-01-01 criteria provided, single submitter research BS1 + BP2
Mendelics RCV002247467 SCV002517129 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381376 SCV002688903 likely benign Cardiovascular phenotype 2020-07-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV003128578 SCV003805623 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing Identified in patients with HHT, HHT-like phenotype, or PAH in published literature (Wooderchalk-Donahue et al., 2013; Zhu et al., 2019; Balachandar et al., 2022) ; however, at least one individual harbored a pathogenic variant in another HHT-related gene (Shovlin et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; One published functional studies showed reduction in mature protein levels but no change in protein activity compared to wild type, while another showed no change in circulating mature protein levels (Wooderchak-Donahue et al., 2013; Hodgson et al., 2020); This variant is associated with the following publications: (PMID: 34611981, 25620979, 32992168, 23972370, 32573726, 34904380, 31661308, 31727138)
Mayo Clinic Laboratories, Mayo Clinic RCV003128578 SCV005410999 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing BS1
OMIM RCV000074346 SCV000105952 pathogenic Telangiectasia, hereditary hemorrhagic, type 5 2013-09-05 no assertion criteria provided literature only

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