Submissions for variant NM_001244008.2(KIF1A):c.4744-5C>T

gnomAD frequency: 0.00024  dbSNP: rs117815481

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000398914	SCV000429191	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555537	SCV000638621	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
GeneDx	RCV001718709	SCV000717382	likely benign	not provided	2020-04-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000600006	SCV001475203	benign	not specified	2020-07-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000600006	SCV002065122	uncertain significance	not specified	2017-09-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001718709	SCV002585870	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	KIF1A: BP4, BP5, BS1
PreventionGenetics, part of Exact Sciences	RCV004530366	SCV004754369	likely benign	KIF1A-related disorder	2019-11-06	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).