ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.79C>T (p.Arg27Trp)

gnomAD frequency: 0.00003  dbSNP: rs370760723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537826 SCV003451482 uncertain significance not provided 2024-10-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 27 of the CDH23 protein (p.Arg27Trp). This variant is present in population databases (rs370760723, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 990898). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDH23 protein function. 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.
Natera, Inc. RCV001279014 SCV001466069 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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