ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2541G>T (p.Leu847=)

gnomAD frequency: 0.00002  dbSNP: rs139023070
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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 RCV001823607 SCV002073177 uncertain significance Hereditary spastic paraplegia 10 criteria provided, single submitter clinical testing The synonymous variant p.L847= in KIF5A (NM_004984.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and in 1000 Genomes. The nucleotide c.2541 in KIF5A is predicted conserved by GERP++ and PhyloP across 100 vertebrates. The p.L847= variant is not predicted to disrupt splicing by any splice site algorithm. For these reasons, this variant has been classified as Uncertain Significance.

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