ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3383T>C (p.Leu1128Pro)

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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 RCV003014719 SCV003318842 uncertain significance Acrocallosal syndrome 2022-02-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1128 of the KIF7 protein (p.Leu1128Pro). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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