Submissions for variant NM_014363.6(SACS):c.12813T>G (p.Pro4271=)

gnomAD frequency: 0.00087  dbSNP: rs146376949

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081835	SCV000629453	likely benign	Spastic paraplegia	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712961	SCV000843521	benign	not specified	2019-09-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114727	SCV001272632	uncertain significance	Charlevoix-Saguenay spastic ataxia	2018-01-17	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001529134	SCV001780346	likely benign	not provided	2020-08-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001114727	SCV002026557	likely benign	Charlevoix-Saguenay spastic ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848920	SCV002104982	likely benign	Hereditary spastic paraplegia	2021-06-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529134	SCV004136790	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	SACS: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003905340	SCV004721040	likely benign	SACS-related condition	2019-07-31	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529134	SCV001742080	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529134	SCV001926414	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529134	SCV001955889	likely benign	not provided		no assertion criteria provided	clinical testing