ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.569C>T (p.Ser190Leu)

gnomAD frequency: 0.00003  dbSNP: rs780667597
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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 RCV000653745 SCV000775635 likely benign Wilms tumor 1 2023-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420150 SCV004118343 uncertain significance GPC3-related disorder 2023-08-11 criteria provided, single submitter clinical testing The GPC3 c.569C>T variant is predicted to result in the amino acid substitution p.Ser190Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD, including three hemizygous individuals (http://gnomad.broadinstitute.org/variant/X-132887972-G-A) and is reported by one outside laboratory as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/543085/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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