ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.64G>A (p.Gly22Arg)

gnomAD frequency: 0.00001  dbSNP: rs1555208692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807778 SCV000947850 uncertain significance Telangiectasia, hereditary hemorrhagic, type 5 2023-08-27 criteria provided, single submitter clinical testing 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 tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 652255). This variant has not been reported in the literature in individuals affected with GDF2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 22 of the GDF2 protein (p.Gly22Arg).

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