ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) (rs794727197)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000262674 SCV000331654 likely pathogenic not provided 2014-11-20 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626977 SCV000747680 uncertain significance Cone dystrophy 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000262674 SCV001202193 pathogenic not provided 2020-09-11 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CDHR1 gene (p.Ile841Serfs*119). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acids of the CDHR1 protein and extend the protein by an additional 99 amino acids. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with cone rod dystrophy and retinitis pigmentosa (PMID: 26766544, 28041643, 28765526). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 194793). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075783 SCV001241416 pathogenic Retinal dystrophy 2019-07-03 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199122 SCV001370117 pathogenic Cone-rod dystrophy 15 2019-02-21 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000262674 SCV001447607 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV001199122 SCV001548115 likely pathogenic Cone-rod dystrophy 15 2021-01-30 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504886 SCV000599036 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504886 SCV000926533 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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