ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)

gnomAD frequency: 0.00004  dbSNP: rs41281306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242830 SCV001415943 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 751 of the CDH23 protein (p.Gly751Arg). This variant is present in population databases (rs41281306, gnomAD 0.01%). This missense change has been observed in individual(s) with non-syndromic deafness (PMID: 26445815). ClinVar contains an entry for this variant (Variation ID: 967827). 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 RCV001242830 SCV001547540 uncertain significance not provided 2020-09-29 criteria provided, single submitter clinical testing Identified in a patient with post-lingual nonsyndromic hearing loss in published literature (Sloan-Heggen et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in 0.0071% (20/279970 alleles) n large population cohorts (Lek et al., 2016)
Fulgent Genetics, Fulgent Genetics RCV002504345 SCV002814297 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2022-04-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829003 SCV002085583 uncertain significance Usher syndrome type 1 2020-01-24 no assertion criteria provided clinical testing

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