ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8488C>A (p.Gln2830Lys)

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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 RCV004610079 SCV005109796 uncertain significance Inborn genetic diseases 2024-05-21 criteria provided, single submitter clinical testing The c.8488C>A (p.Q2830K) alteration is located in exon 59 (coding exon 58) of the CDH23 gene. This alteration results from a C to A substitution at nucleotide position 8488, causing the glutamine (Q) at amino acid position 2830 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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