ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.158C>T (p.Thr53Ile)

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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 RCV004428057 SCV004920611 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.158C>T (p.T53I) alteration is located in exon 4 (coding exon 3) of the CDH23 gene. This alteration results from a C to T substitution at nucleotide position 158, causing the threonine (T) at amino acid position 53 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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