Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091520 | SCV001247627 | pathogenic | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Genetics Institute, |
RCV001391259 | SCV001593208 | likely pathogenic | Lissencephaly; Microcephaly | 2021-05-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001091520 | SCV004270991 | pathogenic | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1081Argfs*8) in the CENPJ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CENPJ are known to be pathogenic (PMID: 15793586, 16900296, 20522431). This variant is present in population databases (rs199422203, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with CENPJ-related conditions (PMID: 34958143, 35229910). ClinVar contains an entry for this variant (Variation ID: 1819). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000001892 | SCV000022048 | pathogenic | Microcephaly 6, primary, autosomal recessive | 2006-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000001892 | SCV000041443 | not provided | Microcephaly 6, primary, autosomal recessive | no assertion provided | literature only |