ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8489_8490delinsCC (p.Gln2830Pro)

dbSNP: rs2494436276
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002695958 SCV002997787 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This missense change has been observed in individual(s) with clinical features of CDH23-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.04%). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2830 of the CDH23 protein (p.Gln2830Pro).

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