ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.513dup (p.Asp172Ter)

dbSNP: rs1603240717
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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 RCV000823186 SCV000964035 pathogenic Wilms tumor 1 2018-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 with GPC3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp172*) in the GPC3 gene. It is expected to result in an absent or disrupted protein product.

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