ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg) (rs727504894)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156273 SCV000205990 uncertain significance not specified 2013-12-23 criteria provided, single submitter clinical testing The Gly2123Arg variant in CDH23 has not been previously reported in individuals with hearing loss or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) sugge st that the Gly2123Arg variant may impact the protein, though this information i s not predictive enough to determine pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant.
Invitae RCV001303575 SCV001492824 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2123 of the CDH23 protein (p.Gly2123Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs727504894, ExAC 0.02%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 179483). 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 C). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. 6
Natera, Inc. RCV001274902 SCV001459455 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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