Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000702500 | SCV000831356 | uncertain significance | Wilms tumor 1 | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 89 of the GPC3 protein (p.Met89Val). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 579259). |
Ambry Genetics | RCV002534400 | SCV003660200 | uncertain significance | Inborn genetic diseases | 2022-11-22 | criteria provided, single submitter | clinical testing | The c.265A>G (p.M89V) alteration is located in exon 2 (coding exon 2) of the GPC3 gene. This alteration results from a A to G substitution at nucleotide position 265, causing the methionine (M) at amino acid position 89 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |