Submissions for variant NM_004984.4(KIF5A):c.2199-4G>A

gnomAD frequency: 0.00077  dbSNP: rs201366820

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205926	SCV000259476	benign	Spastic paraplegia	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280047	SCV000380446	benign	Hereditary spastic paraplegia 10	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.
GeneDx	RCV001705167	SCV000527044	benign	not provided	2020-02-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000431884	SCV001157613	benign	not specified	2019-02-15	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001196525	SCV001367133	likely benign	Myoclonus, intractable, neonatal	2019-03-20	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP6.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847920	SCV002105357	likely benign	Hereditary spastic paraplegia	2017-05-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705167	SCV002821722	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	KIF5A: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003955224	SCV004769382	likely benign	KIF5A-related condition	2022-09-07	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).