ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.1207G>A (p.Val403Ile)

gnomAD frequency: 0.00008  dbSNP: rs367957332
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222293 SCV001394387 uncertain significance Telangiectasia, hereditary hemorrhagic, type 5 2022-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 403 of the GDF2 protein (p.Val403Ile). This variant is present in population databases (rs367957332, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (PMID: 34611981). ClinVar contains an entry for this variant (Variation ID: 950559). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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