ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.2922G>A (p.Pro974=)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578314 SCV000680272 pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2017-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726201 SCV001961239 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001726201 SCV003439556 pathogenic not provided 2022-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 435616). This variant has been observed in individual(s) with KIF11-related conditions (PMID: 25934493, 31130284, 33619735). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 974 of the KIF11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KIF11 protein. This variant also falls at the last nucleotide of exon 20, which is part of the consensus splice site for this exon.
Genetic Services Laboratory, University of Chicago RCV000504431 SCV000595375 uncertain significance not specified 2017-02-08 flagged submission clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000578314 SCV001432352 pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability no assertion criteria provided clinical testing

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