ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) (rs876657756)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001089673 SCV001245155 uncertain significance Nonsyndromic hearing loss and deafness 2019-11-26 reviewed by expert panel curation The c.6866A>G (p.Asn2289Ser) variant in the CDH23 gene is absent from gnomAD (PM2). While the REVEL computational prediction analysis tool produced a score of 0.534, the splice predictor MaxEntScan suggests the variant may impact splicing (PP3). This variant was reported in two individuals with sensorineural hearing loss and one individual with postlingual deafness and bilateral vestibular areflexia (LMM unpublished data SCV000271567.2, ARUP Labs unpublished data SCV000602954.2, University Hospital of Geneva unpublished data SCV000494445.1), though without any evidence of pathogenicity (PM3 not met). In summary, the clinical significance of this variant is uncertain based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel (PM2, PP3).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215740 SCV000271567 uncertain significance not specified 2016-02-07 criteria provided, single submitter clinical testing The p.Asn2289Ser variant in CDH23 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Asn2289Ser variant is u ncertain.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000416514 SCV000494445 likely pathogenic Deafness, autosomal recessive 12 2016-06-08 criteria provided, single submitter clinical testing This CDH23 heterozygous variant inherited from the mother was found in combination with an another CDH23 heterozygous mutation (presumably inherited from the father, but this could not be ascertained, see above) in a child with bilateral postlingual deafness and bilateral vestibular areflexia
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755232 SCV000602954 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing

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