Submissions for variant NM_014363.6(SACS):c.12762C>T (p.Ser4254=)

gnomAD frequency: 0.00978  dbSNP: rs11554397

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633091	SCV000754303	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114730	SCV001272635	uncertain significance	Charlevoix-Saguenay spastic ataxia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics	RCV001288701	SCV001476011	benign	not specified	2020-02-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001571934	SCV001796495	likely benign	not provided	2020-01-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001114730	SCV002026559	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001849009	SCV002104981	uncertain significance	Hereditary spastic paraplegia	2017-06-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001114730	SCV001459470	benign	Charlevoix-Saguenay spastic ataxia	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001288701	SCV001957538	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001288701	SCV001969576	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935763	SCV004749040	benign	SACS-related disorder	2019-08-07	no assertion criteria provided	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).