Submissions for variant NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)

gnomAD frequency: 0.89012  dbSNP: rs3219168

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250217	SCV000313690	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283291	SCV000426295	benign	Amyotrophic lateral sclerosis type 2, juvenile	2018-01-13	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	RCV000347093	SCV000426296	benign	ALS2-related disorder	2018-01-13	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	RCV000710524	SCV000840762	benign	not provided	2017-11-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509591	SCV001716406	benign	Infantile-onset ascending hereditary spastic paralysis	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000283291	SCV001769388	benign	Amyotrophic lateral sclerosis type 2, juvenile	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549266	SCV001769389	benign	Juvenile primary lateral sclerosis	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001509591	SCV001769390	benign	Infantile-onset ascending hereditary spastic paralysis	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000710524	SCV001843645	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710524	SCV005238068	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000250217	SCV001740393	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000250217	SCV001809713	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000250217	SCV001920287	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000250217	SCV001929317	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250217	SCV001957155	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000250217	SCV001968417	benign	not specified		no assertion criteria provided	clinical testing