ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3140C>T (p.Ser1047Leu)

gnomAD frequency: 0.00001  dbSNP: rs267597898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173601 SCV001336701 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV004629148 SCV005129804 uncertain significance not specified 2024-06-13 criteria provided, single submitter clinical testing The p.S1001L variant (also known as c.3002C>T), located in coding exon 27 of the KIF1B gene, results from a C to T substitution at nucleotide position 3002. The serine at codon 1001 is replaced by leucine, an amino acid with dissimilar 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691100 SCV005186431 uncertain significance not provided criteria provided, single submitter not provided

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