Submissions for variant NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)

gnomAD frequency: 0.01445  dbSNP: rs61742937

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250229	SCV000312299	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387370	SCV000477858	benign	Amyotrophic lateral sclerosis type 4	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000250229	SCV000615170	benign	not specified	2017-07-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541126	SCV000645244	benign	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000250229	SCV000708396	benign	not specified	2017-05-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706351	SCV000886104	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168778	SCV001331392	benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Paris Brain Institute, Inserm - ICM	RCV001391479	SCV001451326	uncertain significance	Spastic paraplegia		criteria provided, single submitter	clinical testing
GeneDx	RCV001706351	SCV001837906	benign	not provided	2018-11-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28430856, 27884173, 17159128, 23941260, 23129421, 20981092, 24083349, 23881933)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848031	SCV002105144	benign	Hereditary spastic paraplegia	2021-07-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706351	SCV002498063	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SETX: BP4, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000250229	SCV001808126	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000250229	SCV001918865	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706351	SCV001932455	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000250229	SCV001973933	benign	not specified		no assertion criteria provided	clinical testing