ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)

dbSNP: rs534575559
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071838 SCV001237165 uncertain significance not provided 2022-08-21 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 2833 of the CDH23 protein (p.Arg2833His). This variant is present in population databases (rs534575559, 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: 864613). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001071838 SCV002072710 uncertain significance not provided 2023-10-04 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
Fulgent Genetics, Fulgent Genetics RCV002480446 SCV002791897 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554635 SCV003691702 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.8498G>A (p.R2833H) alteration is located in exon 59 (coding exon 58) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 8498, causing the arginine (R) at amino acid position 2833 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828531 SCV002091944 uncertain significance Usher syndrome type 1 2020-02-26 no assertion criteria provided clinical testing

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