Submissions for variant NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)

gnomAD frequency: 0.00056  dbSNP: rs140929639

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229098	SCV000288780	benign	Spastic paraplegia	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362839	SCV000380439	likely benign	Hereditary spastic paraplegia 10	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001697585	SCV000715905	benign	not provided	2020-05-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697585	SCV002049508	likely benign	not provided	2023-10-16	criteria provided, single submitter	clinical testing
Centogene AG - the Rare Disease Company	RCV000362839	SCV002059574	uncertain significance	Hereditary spastic paraplegia 10	2018-06-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847957	SCV002105348	uncertain significance	Hereditary spastic paraplegia	2019-05-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697585	SCV002585406	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KIF5A: BS1, BS2
Ambry Genetics	RCV002516323	SCV003699766	uncertain significance	Inborn genetic diseases	2021-08-09	criteria provided, single submitter	clinical testing	The c.1105C>T (p.R369W) alteration is located in exon 11 (coding exon 11) of the KIF5A gene. This alteration results from a C to T substitution at nucleotide position 1105, causing the arginine (R) at amino acid position 369 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001697585	SCV003810043	uncertain significance	not provided	2020-08-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947782	SCV004760957	likely benign	KIF5A-related condition	2022-03-14	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).