ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys)

gnomAD frequency: 0.00003  dbSNP: rs760130862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074841 SCV001240442 uncertain significance Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243038 SCV001416170 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2833 of the CDH23 protein (p.Arg2833Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 866653). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV004609617 SCV005107706 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.8497C>T (p.R2833C) alteration is located in exon 59 (coding exon 58) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 8497, causing the arginine (R) at amino acid position 2833 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833688 SCV002091933 uncertain significance Usher syndrome type 1 2020-06-23 no assertion criteria provided clinical testing

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