ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.1063G>T (p.Glu355Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005195013 SCV005833589 pathogenic Telangiectasia, hereditary hemorrhagic, type 5 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu355*) in the GDF2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the GDF2 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GDF2-related conditions. This variant disrupts a region of the GDF2 protein in which other variant(s) (p.Val423Met) have been determined to be pathogenic (PMID: 30578397, 31727138). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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