Submissions for variant NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)

dbSNP: rs75309308

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000464447	SCV000391310	benign	Hereditary spastic paraplegia 11	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.
Invitae	RCV000464447	SCV000557276	benign	Hereditary spastic paraplegia 11	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001579839	SCV001906492	benign	not provided	2019-05-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31182772)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001700053	SCV002104003	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848657	SCV002105787	benign	Hereditary spastic paraplegia	2021-11-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467748	SCV002764199	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467749	SCV002764200	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000464447	SCV002764201	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930356	SCV004743401	benign	SPG11-related condition	2019-10-22	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province	RCV000464447	SCV001573722	affects	Hereditary spastic paraplegia 11		no assertion criteria provided	research
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579839	SCV001808680	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700053	SCV001917210	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579839	SCV001927257	likely benign	not provided		no assertion criteria provided	clinical testing