ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1292+6C>T

gnomAD frequency: 0.00001  dbSNP: rs1207247416
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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 RCV001315291 SCV001505860 uncertain significance Wilms tumor 1 2023-09-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.004%). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1016304). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. This sequence change falls in intron 5 of the GPC3 gene. It does not directly change the encoded amino acid sequence of the GPC3 protein. It affects a nucleotide within the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002493646 SCV002777843 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2022-04-19 criteria provided, single submitter clinical testing

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