Submissions for variant NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)

gnomAD frequency: 0.00115  dbSNP: rs202232792

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000191100	SCV000245499	uncertain significance	Spastic ataxia 2		criteria provided, single submitter	clinical testing
GeneDx	RCV000859538	SCV000572274	likely benign	not provided	2019-05-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26633545, 31101064, 28832565)
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde	RCV000516061	SCV000574499	uncertain significance	Hereditary spastic paraplegia	2017-03-07	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000191100	SCV000767114	benign	Spastic ataxia 2	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000859538	SCV001151169	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	KIF1C: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000516061	SCV002105320	uncertain significance	Hereditary spastic paraplegia	2018-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917730	SCV004728643	likely benign	KIF1C-related disorder	2020-02-14	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).