ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)

dbSNP: rs1060499790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV000454163 SCV002058296 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2022-01-03 criteria provided, single submitter clinical testing The variant was co-segregated with Deafness, autosomal recessive 12, associated with CDH23 gene, is an autosomal recessive disorder in multiple affected family members (PMID: 32747562, PP1_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with CDH23 related disorder (ClinVar ID: VCV000402249, PMID:32747562, PS1_S). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
King Laboratory, University of Washington RCV000454163 SCV002059910 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2020-08-01 criteria provided, single submitter research CDH23 c.8204T>C, p.L2735P alters a completely conserved residue of CDH2. The variant is homozygous in 4 children in two Palestinian families with severe to prpfound pre-lingual hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and from gnomAD v2.1.1.
Hereditary Research Laboratory, Bethlehem University RCV000454163 SCV000538085 pathogenic Autosomal recessive nonsyndromic hearing loss 12 2016-06-04 no assertion criteria provided research congenital, profound

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