ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.716C>T (p.Thr239Met) (rs782560993)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865756 SCV001006773 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287872 SCV001474613 uncertain significance Telangiectasia, hereditary hemorrhagic, type 5 2019-10-30 criteria provided, single submitter clinical testing The GDF2 c.716C>T; p.Thr239Met variant (rs782560993), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the East Asian population with an allele frequency of 0.13% (25/19952 alleles) in the Genome Aggregation Database. The threonine at codon 239 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Thr239Met variant is uncertain at this time.

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