Submissions for variant NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)

gnomAD frequency: 0.00001  dbSNP: rs542427011

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002318697	SCV000849995	likely benign	Inborn genetic diseases	2016-05-14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958638	SCV001105505	likely benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2023-12-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816781	SCV002065614	uncertain significance	not specified	2018-02-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001849083	SCV002104857	uncertain significance	Hereditary spastic paraplegia	2020-07-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002275153	SCV002563668	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	KIF1A: PM2:Supporting, BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004737977	SCV005351295	likely benign	KIF1A-related disorder	2024-07-27	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).