ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.26G>T (p.Cys9Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002596407 SCV002945694 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 9 of the CDH23 protein (p.Cys9Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. 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: "Tolerated"; 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.
Ambry Genetics RCV004064534 SCV004921982 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.26G>T (p.C9F) alteration is located in exon 2 (coding exon 1) of the CDH23 gene. This alteration results from a G to T substitution at nucleotide position 26, causing the cysteine (C) at amino acid position 9 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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