ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) (rs797045673)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193744 SCV000247784 pathogenic Hydrocephalus due to aqueductal stenosis 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000494147 SCV000582597 pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing The R760X nonsense variant in the L1CAM gene has been reported previously in association with X-linked hydrocephalus (Vos et al., 2010). The R760X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay, andits presence is consistent with the diagnosis.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714717 SCV000845444 pathogenic Corpus callosum, partial agenesis of, X-linked 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714718 SCV000845445 pathogenic X-linked hydrocephalus syndrome 2018-08-07 criteria provided, single submitter clinical testing

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