ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)

gnomAD frequency: 0.00001  dbSNP: rs995036419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198559 SCV001369548 likely pathogenic Seckel syndrome 5 2019-09-30 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Invitae RCV003727951 SCV004535383 pathogenic not provided 2023-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg115*) in the CEP152 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP152 are known to be pathogenic (PMID: 21131973). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CEP152-related conditions. ClinVar contains an entry for this variant (Variation ID: 931704). For these reasons, this variant has been classified as Pathogenic.

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