ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.174A>G (p.Pro58=)

gnomAD frequency: 0.00001  dbSNP: rs1357590429
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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 RCV001926257 SCV002202651 uncertain significance Wilms tumor 1 2023-04-06 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1422816). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 58 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.
Fulgent Genetics, Fulgent Genetics RCV005042528 SCV005683306 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-04-20 criteria provided, single submitter clinical testing

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