Submissions for variant NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)

gnomAD frequency: 0.00060  dbSNP: rs143326964

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725991	SCV000341067	uncertain significance	not provided	2016-04-26	criteria provided, single submitter	clinical testing
Invitae	RCV001087471	SCV000560639	likely benign	Spastic paraplegia	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000316036	SCV000613922	likely benign	not specified	2016-10-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114823	SCV001272734	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.
GeneDx	RCV000725991	SCV001764804	likely benign	not provided	2020-09-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725991	SCV002049231	likely benign	not provided	2021-11-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848061	SCV002105349	uncertain significance	Hereditary spastic paraplegia	2017-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002521970	SCV003615627	uncertain significance	Inborn genetic diseases	2021-06-11	criteria provided, single submitter	clinical testing	The c.1150G>C (p.G384R) alteration is located in exon 12 (coding exon 12) of the KIF5A gene. This alteration results from a G to C substitution at nucleotide position 1150, causing the glycine (G) at amino acid position 384 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000725991	SCV004133564	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	KIF5A: BS1
PreventionGenetics, part of Exact Sciences	RCV003957484	SCV004772799	likely benign	KIF5A-related condition	2023-03-08	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).