ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)

dbSNP: rs1555178616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507176 SCV000604074 likely pathogenic not specified 2017-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001062527 SCV001227334 pathogenic Spastic paraplegia 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg772*) 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 variant has not been reported in the literature in individuals affected with KIF5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 439849). For these reasons, this variant has been classified as Pathogenic.

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