ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2892C>T (p.Tyr964=)

gnomAD frequency: 0.00003  dbSNP: rs986716280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001419737 SCV001621998 likely benign Charcot-Marie-Tooth disease type 2 2024-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038172 SCV002749012 uncertain significance not specified 2024-01-30 criteria provided, single submitter clinical testing The c.2754C>T variant (also known as p.Y918Y), located in coding exon 24 of the KIF1B gene, results from a C to T substitution at nucleotide position 2754. This nucleotide substitution does not change the amino acid at codon 918. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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