Submissions for variant NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)

gnomAD frequency: 0.00269  dbSNP: rs61757691

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000277866	SCV000334156	likely benign	not specified	2015-08-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000323025	SCV000426293	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000377762	SCV000426294	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084529	SCV000640096	benign	Infantile-onset ascending hereditary spastic paralysis	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000539511	SCV001142992	benign	not provided	2019-06-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000539511	SCV001153268	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ALS2: BS2
GeneDx	RCV000539511	SCV001812498	likely benign	not provided	2020-01-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27790088, 25174650)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848051	SCV002105255	likely benign	Hereditary spastic paraplegia	2021-02-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000277866	SCV001809716	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000539511	SCV001930807	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000539511	SCV001965982	likely benign	not provided		no assertion criteria provided	clinical testing