ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1359G>C (p.Lys453Asn)

gnomAD frequency: 0.00002  dbSNP: rs148219256
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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 RCV000700545 SCV000829304 likely benign Wilms tumor 1 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV002264980 SCV002546960 uncertain significance not provided 2024-08-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge

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