ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1498-3C>A

dbSNP: rs1191854158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391471 SCV001451318 uncertain significance Spastic paraplegia criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880214 SCV002190678 uncertain significance Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-11-11 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the KIF1A gene. It does not directly change the encoded amino acid sequence of the KIF1A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individual(s) with hereditary spastic paraplegia (PMID: 34983064). ClinVar contains an entry for this variant (Variation ID: 989079). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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