ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)

dbSNP: rs757828399
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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 RCV001174211 SCV001337337 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002339429 SCV002641913 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter clinical testing The p.I1698T variant (also known as c.5093T>C), located in coding exon 44 of the KIF1B gene, results from a T to C substitution at nucleotide position 5093. The isoleucine at codon 1698 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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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