ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.4586G>A (p.Arg1529Gln) (rs191428830)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712151 SCV000842575 likely benign not provided 2017-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000413251 SCV000491944 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KIF1A gene. The R1529Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1529Q variant was not observed with any significant frequency in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project but the 1000 Genomes Project reports R1529Q was observed in 8/198 (4.0%) alleles from individuals of Finnish background, indicating it may be a rare (benign) variant in this population. The R1529Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, this amino acid substitution does not occur within the predicted motor domain of the protein, where all pathogenic missense KIF1A pathogenic variants have been identified to-date (Lee et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000305769 SCV000429178 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360457 SCV000429179 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265875 SCV000429180 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532522 SCV000638625 benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2017-10-10 criteria provided, single submitter clinical testing

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