ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6662A>T (p.Asp2221Val)

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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 RCV004981324 SCV005557984 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.6662A>T (p.D2221V) alteration is located in exon 48 (coding exon 47) of the CDH23 gene. This alteration results from a A to T substitution at nucleotide position 6662, causing the aspartic acid (D) at amino acid position 2221 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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