ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)

gnomAD frequency: 0.00002  dbSNP: rs763119683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247129 SCV001420535 uncertain significance not provided 2022-08-23 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 3324 of the CDH23 protein (p.Glu3324Lys). This variant is present in population databases (rs763119683, gnomAD 0.009%). 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: 971364). 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 C0"). 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.
Baylor Genetics RCV001333133 SCV001525626 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2018-12-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002491836 SCV002791647 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2022-04-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836243 SCV002086431 uncertain significance Usher syndrome type 1 2020-09-01 no assertion criteria provided clinical testing

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