Submissions for variant NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)

gnomAD frequency: 0.00001  dbSNP: rs772742353

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000658671	SCV000225024	uncertain significance	not provided	2014-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000658671	SCV000614989	uncertain significance	not provided	2023-05-23	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.
CeGaT Center for Human Genetics Tuebingen	RCV000658671	SCV000780454	uncertain significance	not provided	2018-09-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001276936	SCV002026502	uncertain significance	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001852116	SCV002291451	likely benign	Spastic paraplegia	2023-12-27	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276936	SCV001463594	uncertain significance	Charlevoix-Saguenay spastic ataxia	2020-09-16	no assertion criteria provided	clinical testing