ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)

gnomAD frequency: 0.00009  dbSNP: rs142046798
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521926 SCV000618642 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KIF1C gene. The K449R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K449R variant is observed in 3/5962 (0.05%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the K449R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Paris Brain Institute, Inserm - ICM RCV001321550 SCV001451146 pathogenic Spastic ataxia 2 criteria provided, single submitter clinical testing
Invitae RCV001321550 SCV001512385 likely benign Spastic ataxia 2 2022-10-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848914 SCV002105291 uncertain significance Hereditary spastic paraplegia 2017-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000521926 SCV001977673 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000521926 SCV001980122 uncertain significance not provided no assertion criteria provided clinical testing

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