ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser)

gnomAD frequency: 0.00001  dbSNP: rs780917129
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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 RCV001069630 SCV001234809 pathogenic not provided 2023-04-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs780917129, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2605 of the CDH23 protein (p.Asn2605Ser). This missense change has been observed in individual(s) with deafness (PMID: 27573290, 30303587). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDH23 protein function. ClinVar contains an entry for this variant (Variation ID: 862821).
Baylor Genetics RCV004570302 SCV005060158 likely pathogenic Pituitary adenoma 5, multiple types 2024-03-20 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001291220 SCV001479645 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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