ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1425_1439del (p.Gly476_Arg480del)

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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 RCV003071126 SCV003452165 uncertain significance Acrocallosal syndrome 2022-08-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant, c.1425_1439del, results in the deletion of 5 amino acid(s) of the KIF7 protein (p.Gly476_Arg480del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KIF7-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.

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