ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)

dbSNP: rs1652211900
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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 RCV001174217 SCV001337344 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV004032972 SCV002606381 uncertain significance not specified 2024-06-14 criteria provided, single submitter clinical testing The p.P1031S variant (also known as c.3091C>T), located in coding exon 27 of the KIF1B gene, results from a C to T substitution at nucleotide position 3091. The proline at codon 1031 is replaced by serine, an amino acid with similar 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.

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