ClinVar Miner

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

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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 RCV002932098 SCV003255389 uncertain significance Charcot-Marie-Tooth disease type 2 2025-01-27 criteria provided, single submitter clinical testing 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. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 2048863). Variants that disrupt 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 is not likely to affect RNA splicing. 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.
Ambry Genetics RCV004066236 SCV004092394 uncertain significance not specified 2023-08-07 criteria provided, single submitter clinical testing The c.1533-3C>A intronic variant results from a C to A 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 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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