ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn)

gnomAD frequency: 0.00021  dbSNP: rs373836924
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537789 SCV003298004 uncertain significance not provided 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1686 of the CDH23 protein (p.Asp1686Asn). This variant is present in population databases (rs373836924, gnomAD 0.05%). 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: 990278). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Ambry Genetics RCV002542891 SCV003744047 likely benign Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV002537789 SCV005190820 uncertain significance not provided criteria provided, single submitter not provided
GeneDx RCV002537789 SCV005690007 uncertain significance not provided 2024-08-08 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001278265 SCV001465263 uncertain significance Usher syndrome type 1 2020-04-16 no assertion criteria provided clinical testing

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