ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.158C>A (p.Thr53Asn)

gnomAD frequency: 0.00005  dbSNP: rs761428295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001326328 SCV001517355 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 53 of the CDH23 protein (p.Thr53Asn). This variant is present in population databases (rs761428295, gnomAD 0.01%). 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: 990899). 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: "Tolerated"; 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.
Natera, Inc. RCV001279015 SCV001466070 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535736 SCV001749853 not provided Usher syndrome type 1D; Prelingual sensorineural hearing impairment no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-22-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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