ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter)

dbSNP: rs202229910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201660 SCV000256438 pathogenic Acrocallosal syndrome 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000201660 SCV000832019 pathogenic Acrocallosal syndrome 2018-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KIF7 are known to be pathogenic (PMID: 19666503, 21552264, 21633164, 26648833). This variant has been observed in an individual affected with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217671). This variant is present in population databases (rs202229910, ExAC 0.1%). This sequence change creates a premature translational stop signal (p.Arg973*) in the KIF7 gene. It is expected to result in an absent or disrupted protein product.

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