ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2497C>T (p.Gln833Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002834702 SCV003217188 pathogenic Acrocallosal syndrome 2022-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIF7-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln833*) 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).
GeneDx RCV003232688 SCV003929548 pathogenic not provided 2023-05-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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