ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9503G>A (p.Arg3168His)

gnomAD frequency: 0.00001  dbSNP: rs754557923
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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, Mass General Brigham Personalized Medicine RCV000825887 SCV000967372 uncertain significance not specified 2018-05-18 criteria provided, single submitter clinical testing The p.Arg3168His variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 6/335 72 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs754557923). Computational prediction tools and co nservation analysis suggest that the p.Arg3168His variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the p.Arg3168His variant is uncertain. A CMG/AMP Criteria applied: PP3.
Invitae RCV002536066 SCV003451627 uncertain significance not provided 2022-06-18 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 3168 of the CDH23 protein (p.Arg3168His). This variant is present in population databases (rs754557923, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 667210). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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 RCV002536066 SCV004170617 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001276929 SCV001463586 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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