ClinVar Miner

Submissions for variant NM_004522.3(KIF5C):c.1454A>C (p.Lys485Thr)

dbSNP: rs2105159248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823683 SCV002073299 uncertain significance Complex cortical dysplasia with other brain malformations 2 criteria provided, single submitter clinical testing The missense variant p.K485T in KIF5C (NM_004522.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.K485T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.K485T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The lysine residue at codon 485 of KIF5C is conserved in all mammalian species. The nucleotide c.1454 in KIF5C is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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