ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)

gnomAD frequency: 0.00005  dbSNP: rs771858198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871598 SCV002210206 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3319 of the CDH23 protein (p.Glu3319Lys). This variant is present in population databases (rs771858198, gnomAD 0.03%). 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: 991955). 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.
Fulgent Genetics, Fulgent Genetics RCV002504410 SCV002813437 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280258 SCV001467423 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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