Submissions for variant NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)

gnomAD frequency: 0.01241  dbSNP: rs113247976

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081669	SCV000288782	benign	Spastic paraplegia	2025-02-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625002	SCV000380458	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.
GeneDx	RCV000424199	SCV000522280	benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625002	SCV000743473	likely benign	Hereditary spastic paraplegia 10	2014-10-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713410	SCV000844011	benign	not provided	2017-12-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000713410	SCV001159128	benign	not provided	2024-05-30	criteria provided, single submitter	clinical testing
UM ALS/MND Lab, University Of Malta	RCV001260204	SCV001437173	uncertain significance	Amyotrophic lateral sclerosis	2020-09-09	criteria provided, single submitter	case-control
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847959	SCV002105373	benign	Hereditary spastic paraplegia	2021-11-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713410	SCV002545046	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	KIF5A: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000424199	SCV001920196	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000424199	SCV001954610	benign	not specified		no assertion criteria provided	clinical testing