ClinVar Miner

Submissions for variant NM_018451.5(CPAP):c.1434del (p.Lys479fs)

dbSNP: rs1954548327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335001 SCV001528028 pathogenic Seckel syndrome 4 2018-05-27 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003770857 SCV004696558 pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1032801). This sequence change creates a premature translational stop signal (p.Lys479Argfs*25) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CENPJ-related conditions. For these reasons, this variant has been classified as Pathogenic.

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