Submissions for variant NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)

gnomAD frequency: 0.00007  dbSNP: rs148925505

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000761851	SCV000892056	uncertain significance	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SACS: PM2, PP3
Athena Diagnostics	RCV000761851	SCV001145308	uncertain significance	not provided	2019-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001111443	SCV001269000	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001241078	SCV001414070	likely benign	Spastic paraplegia	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001111443	SCV002026486	uncertain significance	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001849092	SCV002104965	uncertain significance	Hereditary spastic paraplegia	2020-01-02	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001111443	SCV001455910	uncertain significance	Charlevoix-Saguenay spastic ataxia	2020-01-24	no assertion criteria provided	clinical testing