ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1181A>G (p.Lys394Arg)

gnomAD frequency: 0.00001  dbSNP: rs764609423
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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 RCV000699200 SCV000827900 likely benign Wilms tumor 1 2023-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533551 SCV003737759 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.1181A>G (p.K394R) alteration is located in exon 5 (coding exon 5) of the GPC3 gene. This alteration results from a A to G substitution at nucleotide position 1181, causing the lysine (K) at amino acid position 394 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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