ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.337+2T>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002872284 SCV003239938 likely pathogenic Wilms tumor 1 2022-09-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GPC3-related conditions. This sequence change affects a donor splice site in intron 2 of the GPC3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10402475, 12713262, 17603795). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV004790261 SCV005413439 likely pathogenic not provided 2024-04-26 criteria provided, single submitter clinical testing PM2, PM6, PVS1_strong

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