ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1615A>G (p.Ser539Gly)

dbSNP: rs2069290326
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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 RCV001962260 SCV002132326 uncertain significance Wilms tumor 1 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 539 of the GPC3 protein (p.Ser539Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1367254). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV005040442 SCV005683282 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-04-18 criteria provided, single submitter clinical testing

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