Submissions for variant NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)

gnomAD frequency: 0.00214  dbSNP: rs370286749

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192638	SCV000247723	uncertain significance	not specified	2014-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000192638	SCV000513408	benign	not specified	2015-04-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000192638	SCV000613907	benign	not specified	2019-12-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081600	SCV000638575	benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727207	SCV000706621	uncertain significance	not provided	2017-03-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314827	SCV000848407	likely benign	Inborn genetic diseases	2016-12-03	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000727207	SCV000884057	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001136883	SCV001296757	uncertain significance	Hereditary spastic paraplegia 30	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000727207	SCV001748007	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KIF1A: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847861	SCV002104859	likely benign	Hereditary spastic paraplegia	2021-09-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000727207	SCV001744780	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000192638	SCV001920667	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000727207	SCV001930892	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727207	SCV001966918	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530126	SCV004754840	likely benign	KIF1A-related disorder	2019-09-11	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).