Submissions for variant NM_004984.4(KIF5A):c.292-5G>A

gnomAD frequency: 0.00016  dbSNP: rs201917057

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000400107	SCV000380431	benign	Hereditary spastic paraplegia 10	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	RCV000868475	SCV001009808	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848087	SCV002105370	benign	Hereditary spastic paraplegia	2021-05-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930319	SCV004746905	benign	KIF5A-related condition	2024-01-04	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).