ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup)

dbSNP: rs776528706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192678 SCV000246963 likely pathogenic Seckel syndrome 4 2014-11-26 criteria provided, single submitter clinical testing
Invitae RCV002517922 SCV002960467 uncertain significance not provided 2022-05-13 criteria provided, single submitter clinical testing This variant, c.3495_3497dup, results in the insertion of 1 amino acid(s) of the CENPJ protein (p.Lys1165dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776528706, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CENPJ-related conditions. ClinVar contains an entry for this variant (Variation ID: 210667). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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