ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter)

gnomAD frequency: 0.00001  dbSNP: rs1555178348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599044 SCV000710486 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing The R588X variant in the KIF5A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R588X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R588X as a variant of uncertain significance
Labcorp Genetics (formerly Invitae), Labcorp RCV001325976 SCV001516988 pathogenic Spastic paraplegia 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg588*) in the KIF5A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIF5A are known to be pathogenic (PMID: 26374131). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary spastic paraplegia (Invitae). ClinVar contains an entry for this variant (Variation ID: 504178). For these reasons, this variant has been classified as Pathogenic.

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