ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.*1_*4dup (p.Ter1817=)

dbSNP: rs2102365849
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000910 SCV002268334 uncertain significance Charcot-Marie-Tooth disease type 2 2022-10-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant occurs in a non-coding region of the KIF1B gene. It does not change the encoded amino acid sequence of the KIF1B protein. 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: 1485674). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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