ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.460_463dup (p.Tyr155fs)

dbSNP: rs2071701505
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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 RCV001210467 SCV001381956 pathogenic Wilms tumor 1 2019-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr155Serfs*7) in the GPC3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GPC3-related conditions. Loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10402475, 12713262, 17603795). For these reasons, this variant has been classified as Pathogenic.

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