Submissions for variant NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)

gnomAD frequency: 0.00045  dbSNP: rs200149062

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725374	SCV000336456	uncertain significance	not provided	2015-10-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000725374	SCV000522293	likely benign	not provided	2020-10-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21376300)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081283	SCV000638573	likely benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314010	SCV000848212	likely benign	Inborn genetic diseases	2016-11-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV000725374	SCV001153383	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	KIF1A: BP4, BP7
Illumina Laboratory Services, Illumina	RCV001136884	SCV001296758	uncertain significance	Hereditary spastic paraplegia 30	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725374	SCV001471580	likely benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000346892	SCV001475200	benign	not specified	2020-08-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848054	SCV002104858	likely benign	Hereditary spastic paraplegia	2019-07-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000725374	SCV001921326	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725374	SCV001973016	likely benign	not provided		no assertion criteria provided	clinical testing