Submissions for variant NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)

gnomAD frequency: 0.00332  dbSNP: rs144922627

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001079815	SCV000287160	benign	Spastic paraplegia	2024-01-16	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000434157	SCV000511647	likely benign	not provided	2016-12-29	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000614254	SCV000730019	likely benign	not specified	2017-01-26	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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197126	SCV001367762	benign	Hereditary spastic paraplegia 26	2019-03-27	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
CeGaT Center for Human Genetics Tuebingen	RCV000434157	SCV002497617	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	B4GALNT1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003919946	SCV004731435	benign	B4GALNT1-related condition	2020-11-02	criteria provided, single submitter	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).