ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.760C>T (p.Arg254Ter)

dbSNP: rs752194694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002248270 SCV002520288 pathogenic not provided 2022-05-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17603795)
Labcorp Genetics (formerly Invitae), Labcorp RCV005095840 SCV005839482 pathogenic Wilms tumor 1 2024-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg254*) 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 is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Simpson-Golabi-Behmel syndrome (PMID: 17603795). ClinVar contains an entry for this variant (Variation ID: 1686763). For these reasons, this variant has been classified as Pathogenic.

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