Submissions for variant NM_020919.4(ALS2):c.2466G>A (p.Val822=)

gnomAD frequency: 0.46627  dbSNP: rs2276615

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249292	SCV000313681	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000288406	SCV000426315	benign	Amyotrophic lateral sclerosis type 2, juvenile	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	RCV000352784	SCV000426316	benign	ALS2-related disorder	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.
Athena Diagnostics	RCV000710522	SCV000840760	benign	not provided	2017-11-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509592	SCV001716407	benign	Infantile-onset ascending hereditary spastic paralysis	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548877	SCV001768872	benign	Juvenile primary lateral sclerosis	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001509592	SCV001768873	benign	Infantile-onset ascending hereditary spastic paralysis	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000288406	SCV001769394	benign	Amyotrophic lateral sclerosis type 2, juvenile	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000710522	SCV001865587	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710522	SCV005240259	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249292	SCV001739695	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000249292	SCV001808077	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000249292	SCV001925377	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000249292	SCV001931415	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249292	SCV001952997	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000249292	SCV001969611	benign	not specified		no assertion criteria provided	clinical testing