ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)

dbSNP: rs1650299804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174218 SCV001337345 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV003163383 SCV003913845 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-17 criteria provided, single submitter clinical testing The p.P607H variant (also known as c.1820C>A), located in coding exon 18 of the KIF1B gene, results from a C to A substitution at nucleotide position 1820. The proline at codon 607 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. 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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