ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7655G>C (p.Gly2552Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004428074 SCV004922010 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.7655G>C (p.G2552A) alteration is located in exon 54 (coding exon 53) of the CDH23 gene. This alteration results from a G to C substitution at nucleotide position 7655, causing the glycine (G) at amino acid position 2552 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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