ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1671-3C>G

dbSNP: rs1302986414
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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 RCV001216459 SCV001388256 uncertain significance Charcot-Marie-Tooth disease type 2 2019-06-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with KIF1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 16 of the KIF1B gene. It does not directly change the encoded amino acid sequence of the KIF1B protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV004033999 SCV002703880 uncertain significance not specified 2024-06-04 criteria provided, single submitter clinical testing The c.1533-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 16 in the KIF1B gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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