ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)

dbSNP: rs199422203
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091520 SCV001247627 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
Genetics Institute, Tel Aviv Sourasky Medical Center 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
GeneReviews RCV000001892 SCV000041443 not provided Microcephaly 6, primary, autosomal recessive no assertion provided literature only

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