ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3367-1G>A

gnomAD frequency: 0.00001  dbSNP: rs763715733
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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 RCV003766652 SCV004676191 likely pathogenic not provided 2023-08-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 417856). This variant has not been reported in the literature in individuals affected with CENPJ-related conditions. This variant is present in population databases (rs763715733, gnomAD 0.006%). This sequence change affects an acceptor splice site in intron 12 of the CENPJ gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CENPJ are known to be pathogenic (PMID: 15793586, 16900296, 20522431).
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477911 SCV000536696 likely pathogenic Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 2016-08-15 no assertion criteria provided research

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