ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.629_654delinsCTTGCA (p.Asn210fs)

dbSNP: rs1556297749
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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 RCV000532170 SCV000657581 pathogenic Wilms tumor 1 2017-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in GPC3 are known to be pathogenic (PMID: 10814714, 17603795). This sequence change deletes 26 nucleotides and inserts 6 nucleotides in exon 3 of the GPC3 mRNA (c.629_654delinsCTTGCA), causing a frameshift at codon 210. This creates a premature translational stop signal (p.Asn210Thrfs*11) and is expected to result in an absent or disrupted protein product.

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