ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp)

gnomAD frequency: 0.00001  dbSNP: rs754128851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211824 SCV001383383 uncertain significance not provided 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1149 of the CDH23 protein (p.Asn1149Asp). This variant is present in population databases (rs754128851, 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: 941944). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). 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.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375322 SCV001571992 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
Natera, Inc. RCV001828692 SCV002088106 uncertain significance Usher syndrome type 1 2020-02-13 no assertion criteria provided clinical testing

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