ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5452A>G (p.Asn1818Asp)

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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 RCV002929576 SCV003661921 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.5452A>G (p.N1818D) alteration is located in exon 42 (coding exon 41) of the CDH23 gene. This alteration results from a A to G substitution at nucleotide position 5452, causing the asparagine (N) at amino acid position 1818 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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