ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=)

gnomAD frequency: 0.00001  dbSNP: rs372521322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035350 SCV001198675 uncertain significance Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-10-28 criteria provided, single submitter clinical testing This sequence change affects codon 1522 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. This variant is present in population databases (rs372521322, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KIF1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 834624). 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.
Ambry Genetics RCV002337082 SCV002640230 likely benign Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004693447 SCV005187466 uncertain significance not provided criteria provided, single submitter not provided

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