ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1103T>C (p.Ile368Thr)

dbSNP: rs1569416581
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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 RCV000690040 SCV000817717 uncertain significance Wilms tumor 1 2021-06-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 368 of the GPC3 protein (p.Ile368Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GPC3-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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