ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2770C>T (p.Gln924Ter)

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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 RCV002647779 SCV003523756 pathogenic Acrocallosal syndrome 2023-05-23 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gln924*) in the KIF7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIF7 are known to be pathogenic (PMID: 19666503, 21552264, 21633164, 26648833). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 2202020). For these reasons, this variant has been classified as Pathogenic.

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