Submissions for variant NM_014363.6(SACS):c.3129A>G (p.Ser1043=)

gnomAD frequency: 0.00292  dbSNP: rs148878361

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082217	SCV000289956	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000372721	SCV000338243	likely benign	not specified	2016-01-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334685	SCV000383364	uncertain significance	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710205	SCV000614949	benign	not provided	2017-09-29	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000334685	SCV000744369	likely benign	Charlevoix-Saguenay spastic ataxia	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000710205	SCV001795691	likely benign	not provided	2021-05-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710205	SCV001961395	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SACS: BP4, BP7, BS2
Genome-Nilou Lab	RCV000334685	SCV002026660	benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847975	SCV002105026	likely benign	Hereditary spastic paraplegia	2021-10-12	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000334685	SCV000733202	likely benign	Charlevoix-Saguenay spastic ataxia		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000334685	SCV001464172	benign	Charlevoix-Saguenay spastic ataxia	2020-05-02	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710205	SCV001931869	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929985	SCV004739150	likely benign	SACS-related disorder	2019-03-21	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).