ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)

gnomAD frequency: 0.00011  dbSNP: rs370912192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041905 SCV001205557 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 2290 of the CDH23 protein (p.Thr2290Met). This variant is present in population databases (rs370912192, 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: 840016). 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 C65"). 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 RCV002481892 SCV002783102 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-12-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001041905 SCV005190822 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001827251 SCV002093222 uncertain significance Usher syndrome type 1 2020-02-17 no assertion criteria provided clinical testing

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