ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1051C>T (p.His351Tyr)

dbSNP: rs2071153064
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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 RCV001296342 SCV001485303 uncertain significance Wilms tumor 1 2023-05-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GPC3-related conditions. This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 351 of the GPC3 protein (p.His351Tyr). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1000238). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GPC3 protein function. 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 RCV002476377 SCV002783853 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2022-03-05 criteria provided, single submitter clinical testing

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