Submissions for variant NM_014363.6(SACS):c.10611A>G (p.Ala3537=)

gnomAD frequency: 0.00236  dbSNP: rs137856939

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079473	SCV000289945	benign	Spastic paraplegia	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392205	SCV000383308	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.
Athena Diagnostics	RCV000710203	SCV000614921	benign	not provided	2018-01-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000516579	SCV000707358	likely benign	not specified	2017-04-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000392205	SCV002026577	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847969	SCV002104957	likely benign	Hereditary spastic paraplegia	2019-10-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710203	SCV004700193	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SACS: BP4, BP7, BS2
Natera, Inc.	RCV000392205	SCV001455912	benign	Charlevoix-Saguenay spastic ataxia	2020-01-15	no assertion criteria provided	clinical testing