ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1154T>C (p.Met385Thr)

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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 RCV003197990 SCV003887453 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.1154T>C (p.M385T) alteration is located in exon 13 (coding exon 12) of the CDH23 gene. This alteration results from a T to C substitution at nucleotide position 1154, causing the methionine (M) at amino acid position 385 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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