ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.271C>T (p.Gln91Ter)

dbSNP: rs2076400400
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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 RCV001211057 SCV001382579 pathogenic Wilms tumor 1 2019-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln91*) 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 been observed to be de novo in an individual affected with clinical features of Simpson-Golabi-Behmel syndrome (PMID: 21434539). 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.
PreventionGenetics, part of Exact Sciences RCV004731100 SCV005338283 pathogenic GPC3-related disorder 2024-05-31 no assertion criteria provided clinical testing The GPC3 c.271C>T variant is predicted to result in premature protein termination (p.Gln91*). This variant has been reported with de novo occurrence in an individual with Simpson-Golabi-Behmel syndrome (Ratbi et al 2010. PubMed ID: 21434539). This variant has not been reported in a large population database, indicating it is rare. Nonsense variants in GPC3 are expected to be pathogenic. This variant is interpreted as pathogenic.

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