ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1269dup (p.Arg424fs)

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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 RCV002716364 SCV003002397 pathogenic Acrocallosal syndrome 2024-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg424Alafs*39) 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 is not present in population databases (gnomAD no frequency). 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: 1966171). For these reasons, this variant has been classified as Pathogenic.

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