Submissions for variant NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)

gnomAD frequency: 0.00462  dbSNP: rs55862001

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000333493	SCV000432055	benign	Perry syndrome	2018-01-12	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.
Illumina Laboratory Services, Illumina	RCV000380851	SCV000432056	benign	Neuronopathy, distal hereditary motor, type 7B	2018-01-12	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000541293	SCV000603293	benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000507449	SCV000613071	benign	not specified	2017-03-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084399	SCV000644826	benign	Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000541293	SCV001152368	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	DCTN1: BS2
UM ALS/MND Lab, University Of Malta	RCV001260196	SCV001437165	uncertain significance	Amyotrophic lateral sclerosis	2020-09-09	criteria provided, single submitter	case-control
GeneDx	RCV000541293	SCV001950536	benign	not provided	2018-12-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23143281, 25382069)
Clinical Genetics, Academic Medical Center	RCV000507449	SCV001922346	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000541293	SCV001926773	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000541293	SCV001967080	likely benign	not provided		no assertion criteria provided	clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami	RCV000333493	SCV004174488	uncertain significance	Perry syndrome	2016-01-06	no assertion criteria provided	literature only