ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.5334G>A (p.Arg1778=)

dbSNP: rs2044685522
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002008045 SCV002265885 uncertain significance Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2021-11-20 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with KIF1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 1677 of the KIF1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KIF1A protein. It affects a nucleotide within the consensus splice site.

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