ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285201 SCV001471599 uncertain significance Telangiectasia, hereditary hemorrhagic, type 5 2019-08-05 criteria provided, single submitter clinical testing The GDF2 c.917G>A; p.Gly306Asp variant (rs145635235), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general African population with an allele frequency of 0.1% (29/24950 alleles) in the Genome Aggregation Database. The glycine at codon 306 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data regarding this variant, its clinical significance is uncertain at this time.
Invitae RCV001285201 SCV001635450 likely benign Telangiectasia, hereditary hemorrhagic, type 5 2019-10-02 criteria provided, single submitter clinical testing

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