Submissions for variant NM_014363.6(SACS):c.7149C>T (p.Arg2383=)

gnomAD frequency: 0.01409  dbSNP: rs17078608

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079334	SCV000629479	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115058	SCV001272997	likely benign	Charlevoix-Saguenay spastic ataxia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV001287912	SCV001474677	benign	not specified	2020-02-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000676361	SCV001778870	likely benign	not provided	2020-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848924	SCV002105076	likely benign	Hereditary spastic paraplegia	2021-05-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676361	SCV005219350	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676361	SCV000802137	benign	not provided	2016-02-29	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001115058	SCV001463597	benign	Charlevoix-Saguenay spastic ataxia	2020-09-16	no assertion criteria provided	clinical testing