ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1604C>G (p.Ala535Gly)

dbSNP: rs750138489
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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 RCV000815495 SCV000955953 likely benign Wilms tumor 1 2023-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534873 SCV003537298 uncertain significance Inborn genetic diseases 2022-06-17 criteria provided, single submitter clinical testing The c.1604C>G (p.A535G) alteration is located in exon 8 (coding exon 8) of the GPC3 gene. This alteration results from a C to G substitution at nucleotide position 1604, causing the alanine (A) at amino acid position 535 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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