ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.727A>T (p.Thr243Ser)

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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 RCV004981330 SCV005558000 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.727A>T (p.T243S) alteration is located in exon 8 (coding exon 7) of the CDH23 gene. This alteration results from a A to T substitution at nucleotide position 727, causing the threonine (T) at amino acid position 243 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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