ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) (rs201053044)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723774 SCV000202377 uncertain significance not provided 2014-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764913 SCV000896076 uncertain significance Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000723774 SCV000572172 uncertain significance not provided 2016-11-13 criteria provided, single submitter clinical testing The V1008M variant in the CDH23 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed at any significant frequency in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V1008M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1008M as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000402667 SCV000363677 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283445 SCV000363678 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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