ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln)

gnomAD frequency: 0.00001  dbSNP: rs1349426679
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848487 SCV002105267 uncertain significance Hereditary spastic paraplegia 2021-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034762 SCV002303086 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343879 SCV002647128 uncertain significance Inborn genetic diseases 2019-09-12 criteria provided, single submitter clinical testing The p.R1790Q variant (also known as c.5369G>A), located in coding exon 48 of the KIF1A gene, results from a G to A substitution at nucleotide position 5369. The arginine at codon 1790 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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