ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) (rs1342429887)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000616115 SCV000731984 likely pathogenic Seckel syndrome 2018-01-24 criteria provided, single submitter clinical testing The p.Trp105X (NM_001194998.1 c.314G>A) variant in CEP152 has not been previousl y reported in the literature. It has been identified in 1/17238 East Asian chrom osomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org), th ough its frequency is not high enough to rule out a pathogenic role. This nonsen se variant leads to a premature termination codon at position 105, which is pred icted to lead to a truncated or absent protein. Biallelic loss of function of th e CEP152 gene has been associated with Seckel syndrome. In summary, although add itional studies are required to fully establish a null effect, the p.Trp105X var iant is likely pathogenic for Seckel syndrome in an autosomal recessive manner b ased upon its predicted impact on the protein. ACMG/AMP Criteria Applied: PVS1, PM2 (Richards 2015)

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