ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.1267G>A (p.Val423Met)

dbSNP: rs1358534877
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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 RCV000651839 SCV000773695 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 5 2024-08-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 423 of the GDF2 protein (p.Val423Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with pulmonary arterial hypertension (PMID: 30578397, 31727138). ClinVar contains an entry for this variant (Variation ID: 541539). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects GDF2 function (PMID: 30578397). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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