ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.763G>A (p.Val255Met)

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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 RCV003379253 SCV004087617 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.763G>A (p.V255M) alteration is located in exon 9 (coding exon 8) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 763, causing the valine (V) at amino acid position 255 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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