Submissions for variant NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)

gnomAD frequency: 0.00203  dbSNP: rs116836855

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224244	SCV000281252	uncertain significance	not provided	2015-12-21	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Athena Diagnostics	RCV000517312	SCV000612297	benign	not specified	2020-06-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082964	SCV000653897	likely benign	Congenital myasthenic syndrome 8	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000224244	SCV002028184	likely benign	not provided	2021-05-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516233	SCV003625529	uncertain significance	Inborn genetic diseases	2024-06-10	criteria provided, single submitter	clinical testing	The c.2690C>T (p.A897V) alteration is located in exon 16 (coding exon 16) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 2690, causing the alanine (A) at amino acid position 897 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000224244	SCV005330055	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	AGRN: BP4
PreventionGenetics, part of Exact Sciences	RCV003907838	SCV004722966	likely benign	AGRN-related disorder	2022-03-03	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).