Submissions for variant NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)

gnomAD frequency: 0.00063  dbSNP: rs35698242

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000213625	SCV000279735	uncertain significance	not provided	2023-06-05	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000540329	SCV000638577	likely benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000718021	SCV000848882	uncertain significance	History of neurodevelopmental disorder	2020-05-12	criteria provided, single submitter	clinical testing	The p.I1064T variant (also known as c.3191T>C), located in coding exon 30 of the KIF1A gene, results from a T to C substitution at nucleotide position 3191. The isoleucine at codon 1064 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV000764395	SCV000895448	uncertain significance	Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2018-10-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000213625	SCV001475201	uncertain significance	not provided	2019-11-06	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000213625	SCV001715795	uncertain significance	not provided	2023-05-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847946	SCV002104860	uncertain significance	Hereditary spastic paraplegia	2019-10-01	criteria provided, single submitter	clinical testing
Mendelics	RCV002247667	SCV002517557	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000213625	SCV003814559	uncertain significance	not provided	2022-01-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000213625	SCV004149666	uncertain significance	not provided	2022-10-01	criteria provided, single submitter	clinical testing	KIF1A: PP2, BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000213625	SCV001744309	uncertain significance	not provided		no assertion criteria provided	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV000213625	SCV001749659	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Likely benign and reported on 02-17-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Clinical Genetics, Academic Medical Center	RCV000213625	SCV001918842	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000213625	SCV001970129	uncertain significance	not provided		no assertion criteria provided	clinical testing