ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)

dbSNP: rs886042662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000395243 SCV000335813 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468573 SCV002764752 likely pathogenic Global developmental delay; EEG abnormality; Exaggerated startle response 2021-03-05 criteria provided, single submitter clinical testing
Invitae RCV003743695 SCV004559341 uncertain significance Charcot-Marie-Tooth disease type 2 2023-06-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 283613). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg981*) in the KIF1B gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KIF1B cause disease.

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