Submissions for variant NM_014363.6(SACS):c.10443C>G (p.Leu3481=)

gnomAD frequency: 0.00047  dbSNP: rs144087359

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000361442	SCV000383310	uncertain significance	Charlevoix-Saguenay spastic ataxia	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000862081	SCV001002525	likely benign	Spastic paraplegia	2024-01-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001288370	SCV001475435	likely benign	not provided	2019-09-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000361442	SCV002026580	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848097	SCV002104956	uncertain significance	Hereditary spastic paraplegia	2018-04-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001288370	SCV004136799	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	SACS: BP4, BP7
Natera, Inc.	RCV000361442	SCV001455914	uncertain significance	Charlevoix-Saguenay spastic ataxia	2019-11-11	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723893	SCV001956110	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001288370	SCV001963820	likely benign	not provided		no assertion criteria provided	clinical testing