ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) (rs1064793163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487331 SCV000565103 pathogenic not provided 2018-04-26 criteria provided, single submitter clinical testing The Q470X nonsense variant in the L1CAM gene has not previously been reported in the literature to our knowledge. It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q470X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Approximately 5% of females who are heterozygous for pathogenic variants in the L1CAM gene will exhibit clinical manifestations of an L1CAM-related disorder (Kaepernick et al., 1994).
Institute of Human Genetics, University of Leipzig Medical Center RCV001262258 SCV001440059 pathogenic X-linked hydrocephalus syndrome 2019-01-01 criteria provided, single submitter clinical testing

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