Submissions for variant NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)

gnomAD frequency: 0.00016  dbSNP: rs76872266

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000282202	SCV000334646	likely benign	not specified	2015-08-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269188	SCV000383357	uncertain significance	Charlevoix-Saguenay spastic ataxia	2018-01-13	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	RCV001086494	SCV001001451	likely benign	Spastic paraplegia	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000861200	SCV001145331	benign	not provided	2018-10-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000269188	SCV002026654	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848052	SCV002105034	uncertain significance	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947857	SCV004763140	benign	SACS-related condition	2019-12-09	criteria provided, single submitter	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).
Natera, Inc.	RCV000269188	SCV001464169	likely benign	Charlevoix-Saguenay spastic ataxia	2020-01-06	no assertion criteria provided	clinical testing