ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.674T>G (p.Val225Gly)

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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 RCV002918281 SCV003256892 uncertain significance Wilms tumor 1 2022-06-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. This variant is present in population databases (rs767701856, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 225 of the GPC3 protein (p.Val225Gly).

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