ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1254C>T (p.Asn418=)

gnomAD frequency: 0.00032  dbSNP: rs150766741
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457758 SCV000559605 benign Wilms tumor 1 2024-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001692136 SCV001912919 benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418462 SCV002676480 benign Inborn genetic diseases 2017-09-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001692136 SCV005279554 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003970335 SCV004784576 likely benign GPC3-related disorder 2022-05-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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