Submissions for variant NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)

gnomAD frequency: 0.00117  dbSNP: rs150672943

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000625001	SCV000380455	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.
Eurofins Ntd Llc (ga)	RCV000595607	SCV000704525	likely benign	not specified	2016-12-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625001	SCV000743472	likely benign	Hereditary spastic paraplegia 10	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625001	SCV000744725	likely benign	Hereditary spastic paraplegia 10	2016-01-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860656	SCV001000775	likely benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001699440	SCV001470978	likely benign	not provided	2021-02-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848093	SCV002105368	likely benign	Hereditary spastic paraplegia	2017-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001699440	SCV002821724	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KIF5A: BS1
Ambry Genetics	RCV004021552	SCV004892802	uncertain significance	Inborn genetic diseases	2022-01-21	criteria provided, single submitter	clinical testing	The c.2839A>G (p.T947A) alteration is located in exon 25 (coding exon 25) of the KIF5A gene. This alteration results from a A to G substitution at nucleotide position 2839, causing the threonine (T) at amino acid position 947 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center	RCV001699440	SCV001923235	likely benign	not provided		no assertion criteria provided	clinical testing