Submissions for variant NM_014363.6(SACS):c.5744A>G (p.His1915Arg)

gnomAD frequency: 0.00009  dbSNP: rs144822691

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000712979	SCV000843539	uncertain significance	not provided	2022-12-12	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
Fulgent Genetics, Fulgent Genetics	RCV000765123	SCV000896345	uncertain significance	Charlevoix-Saguenay spastic ataxia	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV001245813	SCV001419125	likely benign	Spastic paraplegia	2024-01-25	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000712979	SCV001715027	uncertain significance	not provided	2020-09-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000765123	SCV002026521	uncertain significance	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712979	SCV004033240	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing	SACS: PM2, PP3
Natera, Inc.	RCV000765123	SCV002086253	uncertain significance	Charlevoix-Saguenay spastic ataxia	2020-03-08	no assertion criteria provided	clinical testing