Submissions for variant NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)

gnomAD frequency: 0.00038  dbSNP: rs145062338

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231949	SCV000288781	benign	Spastic paraplegia	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000294879	SCV000380449	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga)	RCV000728519	SCV000856103	benign	not specified	2017-08-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001707560	SCV001936068	benign	not provided	2019-05-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847958	SCV002105361	likely benign	Hereditary spastic paraplegia	2020-04-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001707560	SCV004133571	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	KIF5A: BP4, BS2