ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.369G>C (p.Lys123Asn)

gnomAD frequency: 0.00002  dbSNP: rs201942331
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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 RCV000806435 SCV000946434 likely benign Wilms tumor 1 2023-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028245 SCV004877235 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.369G>C (p.K123N) alteration is located in exon 3 (coding exon 3) of the GPC3 gene. This alteration results from a G to C substitution at nucleotide position 369, causing the lysine (K) at amino acid position 123 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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