ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.265A>G (p.Met89Val)

dbSNP: rs1569458698
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.