ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.805del (p.Ala269fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003779481 SCV004603866 pathogenic Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala269Profs*7) in the KIF1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIF1A are known to be pathogenic (PMID: 21820098). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KIF1A-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005014948 SCV005651575 likely pathogenic Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30b, autosomal recessive 2024-04-08 criteria provided, single submitter clinical testing

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