Submissions for variant NM_014363.6(SACS):c.2929C>T (p.Leu977=)

gnomAD frequency: 0.00029  dbSNP: rs146296924

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000840234	SCV000982156	likely benign	not provided	2018-04-06	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	RCV001083492	SCV001001663	likely benign	Spastic paraplegia	2025-01-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000840234	SCV001476811	likely benign	not provided	2019-10-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001277262	SCV001464174	likely benign	Charlevoix-Saguenay spastic ataxia	2020-05-02	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908132	SCV004724695	likely benign	SACS-related disorder	2023-12-21	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).