Submissions for variant NM_014363.6(SACS):c.8022T>C (p.Phe2674=)

dbSNP: rs34928783

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000512830	SCV000338184	uncertain significance	not provided	2015-12-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000512830	SCV000608672	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	SACS: BP4, BP7
Invitae	RCV001085541	SCV001002081	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000512830	SCV001145347	benign	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001111636	SCV001269205	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.
Genome-Nilou Lab	RCV001111636	SCV002026606	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848058	SCV002105090	uncertain significance	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001111636	SCV001455927	benign	Charlevoix-Saguenay spastic ataxia	2020-05-19	no assertion criteria provided	clinical testing