ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)

dbSNP: rs587777197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000087323 SCV000941592 pathogenic Spastic ataxia 2 2022-11-24 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: 101066). This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia (PMID: 24319291, 24482476). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg731*) 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).
OMIM RCV000087323 SCV000120203 pathogenic Spastic ataxia 2 2014-02-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004752746 SCV005342949 pathogenic KIF1C-related disorder 2024-03-13 no assertion criteria provided clinical testing The KIF1C c.2191C>T variant is predicted to result in premature protein termination (p.Arg731*). This variant in the homozygous condition was reported in two families with hereditary spastic paraplegia with cerebellar dysfunction (Dor et al. 2014. PubMed ID: 24319291; Family 803, Novarino et al. 2014. PubMed ID: 24482476). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in KIF1C are expected to be pathogenic. This variant is interpreted as pathogenic.

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