ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.175+2T>C

dbSNP: rs2124655627
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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 RCV001970035 SCV002236646 pathogenic Wilms tumor 1 2020-11-06 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Simpson-Golabi-Behmel syndrome (PMID: 29637653). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 1 of the GPC3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10402475, 12713262, 17603795).

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