ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6439A>G (p.Thr2147Ala)

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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 RCV002935811 SCV003668366 uncertain significance Inborn genetic diseases 2022-12-06 criteria provided, single submitter clinical testing The c.6439A>G (p.T2147A) alteration is located in exon 48 (coding exon 47) of the CDH23 gene. This alteration results from a A to G substitution at nucleotide position 6439, causing the threonine (T) at amino acid position 2147 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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