ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.601_604del (p.Lys201fs)

dbSNP: rs2143313439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918167 SCV002178940 pathogenic Spastic ataxia 2 2023-06-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1406903). This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys201Hisfs*9) in the KIF1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIF1C are known to be pathogenic (PMID: 24319291, 24482476).

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