ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3028C>T (p.Arg1010Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004428061 SCV004921986 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.3028C>T (p.R1010C) alteration is located in exon 26 (coding exon 25) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 3028, causing the arginine (R) at amino acid position 1010 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004759390 SCV005369928 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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