ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) (rs181255269)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487684 SCV000574842 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039124 SCV000202374 likely benign not specified 2016-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515411 SCV000611446 uncertain significance Deafness, autosomal recessive 12; Usher syndrome, type 1D 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000487684 SCV000568533 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing The H755Y variant in the CDH23 gene has been reported previously in a few individuals with Usher syndrome; however, additional clinical and familial segregation information were not included in these reports (Oshima et al., 2008; Bonnet et al., 2011). In addition, the H755Y variant was observed in an consanguineous family with Usher syndrome type 2, where a USH2A nonsense variant was found to co-segregate with disease in homozygous individuals (Le Quesne Stabej et al., 2012). The H755Y variant is observed in 250/30,740 (0.81%) alleles from individuals of South Asian background, including one homozygous individual, in large population cohorts (Lek et al., 2016). The H755Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret H755Y as a variant of uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039124 SCV000062806 benign not specified 2015-12-17 criteria provided, single submitter clinical testing p.His755Tyr in exon 21 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.85% (136/16100) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs181255269).
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787557 SCV000926532 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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