ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.2160+5G>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 RCV002720983 SCV003003786 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the KIF11 gene. It does not directly change the encoded amino acid sequence of the KIF11 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with KIF11-related conditions. 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.
Clinical Genomics Laboratory, Washington University in St. Louis RCV003455563 SCV004177171 uncertain significance Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2023-08-11 criteria provided, single submitter clinical testing The KIF11 c.2160+5G>A variant, to our knowledge, has not been reported in the medical literature. This variant is listed in the ClinVar database as being of uncertain significance by one submitter (ClinVar ID 1961840). KIF11 c.2160+5G>A is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant has no impact on splicing, evidence that this variant does not have a damaging effect on KIF11 protein function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as being of uncertain clinical significance at this time.

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