ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys)

gnomAD frequency: 0.00009  dbSNP: rs199998986
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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 RCV000874310 SCV001016468 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-11-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509204 SCV001715794 uncertain significance not provided 2020-10-12 criteria provided, single submitter clinical testing
GeneDx RCV001509204 SCV001982728 uncertain significance not provided 2024-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31734026)
Ambry Genetics RCV002454029 SCV002616716 uncertain significance Inborn genetic diseases 2018-06-12 criteria provided, single submitter clinical testing The p.R1190C variant (also known as c.3568C>T), located in coding exon 34 of the KIF1A gene, results from a C to T substitution at nucleotide position 3568. The arginine at codon 1190 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well 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.
Athena Diagnostics RCV004997438 SCV005622306 likely benign not specified 2023-12-15 criteria provided, single submitter clinical testing

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