Submissions for variant NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)

gnomAD frequency: 0.00044  dbSNP: rs142059681

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081983	SCV000290742	likely benign	Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV004700302	SCV000838430	likely benign	Hereditary cancer	2024-09-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity.
GeneDx	RCV000034780	SCV002525355	uncertain significance	not provided	2024-08-27	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast cancer as well as in males with oligozoospermia (PMID: 35264596, 30306255, 25451826); This variant is associated with the following publications: (PMID: 30219896, 24728327, 29399405, 25451826, 28780565, 30306255, 25645356, 34518484, 22703879, 35264596)
Sema4, Sema4	RCV002255123	SCV002530512	likely benign	Hereditary cancer-predisposing syndrome	2020-10-25	criteria provided, single submitter	curation
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034780	SCV000043551	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
ITMI	RCV000122312	SCV000086542	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV004549406	SCV004753090	likely benign	WT1-related disorder	2020-11-02	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).