Submissions for variant NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)

gnomAD frequency: 0.00008  dbSNP: rs201733233

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000501266	SCV000595379	likely benign	not specified	2016-08-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078592	SCV000638627	likely benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316438	SCV000850464	likely benign	Inborn genetic diseases	2017-01-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics	RCV000557391	SCV001144378	benign	not provided	2019-08-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000557391	SCV001768518	likely benign	not provided	2020-04-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848869	SCV002105262	likely benign	Hereditary spastic paraplegia	2019-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000557391	SCV004042129	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	KIF1A: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004535599	SCV004743978	likely benign	KIF1A-related disorder	2019-09-10	no assertion criteria provided	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).