ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2593-3C>G

gnomAD frequency: 0.00002  dbSNP: rs774403667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, University of Zurich RCV000616302 SCV000579460 pathogenic Acrocallosal syndrome 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000616302 SCV002153172 pathogenic Acrocallosal syndrome 2022-12-30 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the KIF7 gene. It does not directly change the encoded amino acid sequence of the KIF7 protein. It affects a nucleotide within the consensus splice site. 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: 427889). This variant has been observed in individual(s) with acrocallosal syndrome (PMID: 23125460, 29321670, 31399769). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs774403667, gnomAD 0.005%).

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