Submissions for variant NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)

gnomAD frequency: 0.00113  dbSNP: rs141002044

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV001288422	SCV001475507	likely benign	not provided	2019-11-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001288422	SCV001604662	likely benign	not provided	2023-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001288422	SCV001794237	uncertain significance	not provided	2023-02-09	criteria provided, single submitter	clinical testing	Reported in a patient with end stage renal disease in published literature (Mansilla et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31738409)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294451	SCV002587287	likely benign	Focal segmental glomerulosclerosis	2022-09-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001288422	SCV004141661	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ACTN4: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003928822	SCV004741892	likely benign	ACTN4-related disorder	2019-10-28	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).