ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) (rs797045454)

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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 RCV000193152 SCV000246966 pathogenic Seckel syndrome 4 2013-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825515 SCV000966826 likely pathogenic Primary autosomal recessive microcephaly 2018-12-27 criteria provided, single submitter clinical testing The p.Glu300ThrfsX7 variant in CENPJ has been reported in one individual with Se ckel syndrome (ClinVar Variation ID #210670). It has been identified in 2/113580 of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enoug h to be consistent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 300 and leads to a premature termination codon 7 amino acids downst ream. This alteration is then predicted to lead to a truncated or absent protein . Biallelic loss of function of the CENPJ gene has been strongly associated with autosomal recessive primary microcephaly with or without clinical features of S eckel syndrome. In summary, although additional studies are required to fully es tablish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive primary microcephaly with or withou t clinical features of Seckel syndrome. ACMG/AMP Criteria applied: PM2, PVS1.

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