ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1032T>C (p.Thr344=)

dbSNP: rs2124479695
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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 RCV001874971 SCV002145214 uncertain significance Wilms tumor 1 2021-08-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change affects codon 344 of the GPC3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GPC3 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.

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