ClinVar Miner

Submissions for variant NM_002905.4(RDH5):c.285G>A (p.Trp95Ter) (rs774122562)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520865 SCV000617724 pathogenic not provided 2017-08-28 criteria provided, single submitter clinical testing The W95X variant has been reported previously in association with fundus albipunctatus (Wang et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.
GenomeConnect, ClinGen RCV000844920 SCV000986732 not provided Fundus albipunctatus, autosomal recessive no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 12/30/2014 by GTR ID 21766. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190620 SCV000245656 pathogenic Pigmentary retinal dystrophy 2014-12-30 criteria provided, single submitter clinical testing The Trp95X variant in RDH5 has been reported in 1 compound heterozygous Asian individual with fundus albipunctatus (Wang 2012). This variant has also been identified in 3/8708 of East Asian chromosomes by the Exome aggregation Consortium (http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This nonsense variant leads to a premature termination codon at position 95, which is predicted to lead to a truncated or absent protein. Complete loss of RDH5 function is an established disease mechanism for fundus albipunctatus (Driessen 2001, Schatz 2010, Sergouniotis 2011). In summary, this variant meets our criteria to be classified as pathogenic for fundus albipunctatus in an autosomal recessive manner based on the predicted impact to the protein.

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