ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)

gnomAD frequency: 0.00002  dbSNP: rs376614796
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065299 SCV001230255 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1706 of the CDH23 protein (p.Arg1706His). This variant is present in population databases (rs376614796, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of CDH23-related conditions (PMID: 31152317). ClinVar contains an entry for this variant (Variation ID: 859233). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDH23 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001065299 SCV002758962 uncertain significance not provided 2022-11-10 criteria provided, single submitter clinical testing Identified with a second CDH23 variant in a patient with childhood onset snesorineural hearing loss in published literature (van Beeck Calkoen et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31152317)
Fulgent Genetics, Fulgent Genetics RCV002479383 SCV002781317 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2022-05-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272907 SCV001455331 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001065299 SCV001924950 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001065299 SCV001956551 uncertain significance not provided no assertion criteria provided clinical testing

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