Submissions for variant NM_020919.4(ALS2):c.3309T>C (p.His1103=)

gnomAD frequency: 0.00184  dbSNP: rs201920363

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086810	SCV000640094	benign	Infantile-onset ascending hereditary spastic paralysis	2024-01-23	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000555606	SCV001142991	benign	not provided	2019-01-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001136966	SCV001296848	likely benign	ALS2-Related Disorders	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	RCV001139217	SCV001299337	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.
GeneDx	RCV000555606	SCV001819244	likely benign	not provided	2021-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000555606	SCV002496628	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ALS2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003905392	SCV004726976	likely benign	ALS2-related condition	2019-08-07	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).