Submissions for variant NM_019109.5(ALG1):c.1080G>A (p.Ala360=)

gnomAD frequency: 0.00467  dbSNP: rs143939207

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000433439	SCV000520263	likely benign	not specified	2018-01-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000865442	SCV001006406	benign	ALG1-congenital disorder of glycosylation	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532278	SCV001747760	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ALG1: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV000865442	SCV002798362	benign	ALG1-congenital disorder of glycosylation	2021-08-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912662	SCV004739366	likely benign	ALG1-related disorder	2022-02-14	criteria provided, single submitter	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).
Breakthrough Genomics, Breakthrough Genomics	RCV001532278	SCV005217406	likely benign	not provided		criteria provided, single submitter	not provided