ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4652G>C (p.Arg1551Thr)

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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 RCV004981327 SCV005557994 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.4652G>C (p.R1551T) alteration is located in exon 38 (coding exon 37) of the CDH23 gene. This alteration results from a G to C substitution at nucleotide position 4652, causing the arginine (R) at amino acid position 1551 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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