Submissions for variant NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)

dbSNP: rs148286091

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000392351	SCV000341034	likely benign	not specified	2016-05-13	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676373	SCV000802149	uncertain significance	not provided	2020-02-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083937	SCV001003798	likely benign	Spastic paraplegia	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000676373	SCV001814542	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000392351	SCV001880403	benign	not specified	2021-03-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001782775	SCV002026689	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001782775	SCV002086744	likely benign	Charlevoix-Saguenay spastic ataxia	2021-02-26	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957483	SCV004772330	likely benign	SACS-related disorder	2023-05-24	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).