ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6194A>G (p.Asn2065Ser)

gnomAD frequency: 0.00002  dbSNP: rs765490119
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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 RCV001051594 SCV001215759 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2065 of the CDH23 protein (p.Asn2065Ser). This variant is present in population databases (rs765490119, gnomAD 0.004%). 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: 847946). 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 C45"). 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.
GeneDx RCV001051594 SCV001983003 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001832472 SCV002092611 uncertain significance Usher syndrome type 1 2020-02-26 no assertion criteria provided clinical testing

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