ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)

gnomAD frequency: 0.00379  dbSNP: rs142056835
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000516075 SCV000574485 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000487792 SCV000575080 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KIF1C: BS2
GeneDx RCV000497507 SCV000589514 likely benign not specified 2017-10-27 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.
Invitae RCV001079974 SCV000645928 likely benign Spastic ataxia 2 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000516075 SCV002105282 likely benign Hereditary spastic paraplegia 2021-03-29 criteria provided, single submitter clinical testing

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