ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) (rs201877610)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039168 SCV000062852 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Gly1329Asp variant in CDH23 has been previously reported in the heterozygo us state in 1 individual with hearing loss by our laboratory and in 1 individual with Usher syndrome (Bujakowska 2014). However, neither individual had a second variant affecting the remaining copy of CDH23 and the individual reported by Bu jakowska (2014) had an alternate explanation of the hearing loss identified. Thi s variant was also identified in 35/63866 European chromosomes by the Exome Aggr egation Consortium (ExAC,; dbSNP rs201877610). Al though this variant has been seen in the general population, its frequency is no t high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. In summar y, the clinical significance of the p.Gly1329Asp variant is uncertain.
GeneDx RCV000726811 SCV000577393 uncertain significance not provided 2018-12-06 criteria provided, single submitter clinical testing The G1329D variant in the CDH23 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1329D variant is observed in 35/63866 (0.055%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The G1329D 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G1329D as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726811 SCV000703221 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764916 SCV000896079 uncertain significance Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 2018-10-31 criteria provided, single submitter clinical testing

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