Submissions for variant NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)

gnomAD frequency: 0.00025  dbSNP: rs199995104

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000873271	SCV001015231	benign	ALG9 congenital disorder of glycosylation	2023-06-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002539166	SCV003588999	uncertain significance	Inborn genetic diseases	2022-10-11	criteria provided, single submitter	clinical testing	The c.1750C>T (p.R584W) alteration is located in exon 15 (coding exon 15) of the ALG9 gene. This alteration results from a C to T substitution at nucleotide position 1750, causing the arginine (R) at amino acid position 584 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV003153878	SCV003842497	uncertain significance	not provided	2023-03-16	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics	RCV003153878	SCV005231555	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003955704	SCV004770562	benign	ALG9-related disorder	2022-12-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).