Submissions for variant NM_020919.4(ALS2):c.280A>G (p.Ile94Val)

gnomAD frequency: 0.03476  dbSNP: rs3219154

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244654	SCV000313683	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387223	SCV000426334	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.
Illumina Laboratory Services, Illumina	RCV000281155	SCV000426335	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459871	SCV000563498	benign	Infantile-onset ascending hereditary spastic paralysis	2025-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706359	SCV000602475	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000244654	SCV001476904	benign	not specified	2023-12-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001706359	SCV001840268	benign	not provided	2018-08-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28430856, 18810511, 14676054, 25588603)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848039	SCV002104772	benign	Hereditary spastic paraplegia	2021-11-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706359	SCV005240269	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244654	SCV001808566	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244654	SCV001928523	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000244654	SCV001972363	benign	not specified		no assertion criteria provided	clinical testing