Submissions for variant NM_004100.5(EYA4):c.741A>G (p.Pro247=)

gnomAD frequency: 0.00004  dbSNP: rs752226573

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217236	SCV000270201	likely benign	not specified	2015-01-05	criteria provided, single submitter	clinical testing	p.Pro247Pro in exon 10 of EYA4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/10068 of Africa n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057105	SCV002357487	likely benign	Dilated cardiomyopathy 1J	2022-10-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381731	SCV002668376	likely benign	Cardiovascular phenotype	2019-04-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000217236	SCV004020952	likely benign	not specified	2023-06-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530294	SCV004715261	likely benign	EYA4-related disorder	2024-02-12	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).