ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln)

gnomAD frequency: 0.00011  dbSNP: rs376432305
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793420 SCV000932771 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2025-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000675 SCV001157705 uncertain significance not specified 2018-07-10 criteria provided, single submitter clinical testing The KIF1A c.4195G>C; p.Glu1399Gln variant (rs376432305), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.005% (13 / 202,520 alleles) in the Genome Aggregation Database. The glutamic acid at codon 1399 is highly conserved but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Glu1399Gln variant is uncertain at this time.
CeGaT Center for Human Genetics Tuebingen RCV001310786 SCV001500724 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing KIF1A: PP3
GeneDx RCV001310786 SCV002567697 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002332590 SCV002637573 uncertain significance Inborn genetic diseases 2021-03-29 criteria provided, single submitter clinical testing The p.E1500Q variant (also known as c.4498G>C), located in coding exon 42 of the KIF1A gene, results from a G to C substitution at nucleotide position 4498. The glutamic acid at codon 1500 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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