ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6508T>C (p.Ser2170Pro)

dbSNP: rs2132954039
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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 RCV002010863 SCV002290464 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDH23 protein function. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2170 of the CDH23 protein (p.Ser2170Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CDH23-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1501974). 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.

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