ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.318G>C (p.Gln106His)

gnomAD frequency: 0.00002  dbSNP: rs750139856
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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 RCV001913582 SCV002181639 uncertain significance Wilms tumor 1 2021-03-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 106 of the GPC3 protein (p.Gln106His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs750139856, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with GPC3-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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