ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7197C>A (p.Asn2399Lys)

dbSNP: rs2494403582
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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 RCV002809356 SCV003603925 uncertain significance Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing The c.7197C>A (p.N2399K) alteration is located in exon 51 (coding exon 50) of the CDH23 gene. This alteration results from a C to A substitution at nucleotide position 7197, causing the asparagine (N) at amino acid position 2399 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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