ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6856G>A (p.Val2286Ile)

gnomAD frequency: 0.00001  dbSNP: rs548373542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060782 SCV001225493 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2286 of the CDH23 protein (p.Val2286Ile). This variant is present in population databases (rs548373542, gnomAD 0.01%). 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: 855501). 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 with a negative predictive value of 95%. 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. RCV001278280 SCV001465278 uncertain significance Usher syndrome type 1 2020-08-13 no assertion criteria provided clinical testing

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