ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1269G>A (p.Trp423Ter)

dbSNP: rs2071072718
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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 RCV001211200 SCV001382727 pathogenic Wilms tumor 1 2022-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp423*) in the GPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10402475, 12713262, 17603795). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 941417). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency).

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