ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2959_2961del (p.Glu987del)

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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 RCV003005238 SCV003305370 uncertain significance Acrocallosal syndrome 2022-01-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant, c.2959_2961del, results in the deletion of 1 amino acid(s) of the KIF7 protein (p.Glu987del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant disrupts a region of the KIF7 protein in which other variant(s) (p.Glu987Lys) have been observed in individuals with KIF7-related conditions (PMID: 25131622, 26174511). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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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