ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.1135del (p.Leu379fs)

dbSNP: rs1259967380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910052 SCV002182624 pathogenic Telangiectasia, hereditary hemorrhagic, type 5 2023-08-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1408617). This premature translational stop signal has been observed in individual(s) with clinical features of pulmonary arterial hypertension (PMID: 31727138). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu379Trpfs*20) in the GDF2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the GDF2 protein. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693940 SCV005190729 uncertain significance not provided criteria provided, single submitter not provided

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