ClinVar Miner

Submissions for variant NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs)

dbSNP: rs890128759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075216 SCV001240830 likely pathogenic Retinal dystrophy 2018-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862601 SCV002231958 pathogenic not provided 2023-04-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIZ-related conditions. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 866866). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gln467Glyfs*11) in the KIZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIZ are known to be pathogenic (PMID: 24680887, 29057815).

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