ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5276C>T (p.Pro1759Leu)

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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 RCV003239473 SCV003937435 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.5276C>T (p.P1759L) alteration is located in exon 41 (coding exon 40) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 5276, causing the proline (P) at amino acid position 1759 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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