ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys)

gnomAD frequency: 0.00003  dbSNP: rs372226807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001887446 SCV002166732 benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334834 SCV002644021 uncertain significance Inborn genetic diseases 2021-06-21 criteria provided, single submitter clinical testing The p.R1662C variant (also known as c.4984C>T), located in coding exon 45 of the KIF1A gene, results from a C to T substitution at nucleotide position 4984. The arginine at codon 1662 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is 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.

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