ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3644C>A (p.Pro1215Gln)

dbSNP: rs369255811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507421 SCV001712964 uncertain significance not provided 2020-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458492 SCV002616001 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-31 criteria provided, single submitter clinical testing The p.P1169Q variant (also known as c.3506C>A), located in coding exon 31 of the KIF1B gene, results from a C to A substitution at nucleotide position 3506. The proline at codon 1169 is replaced by glutamine, an amino acid with 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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