Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000911024 | SCV001056077 | benign | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844246 | SCV002103961 | benign | not specified | 2022-02-23 | criteria provided, single submitter | clinical testing | Variant summary: CDH23 c.8120C>T (p.Pro2707Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0013 in 196848 control chromosomes (gnomAD), predominantly at a frequency of 0.009 within the South Asian subpopulation in the gnomAD database, including 4 homozygotes. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 2.79 fold of the estimated maximal expected allele frequency for a pathogenic variant in CDH23 causing Usher Syndrome phenotype (0.0032), suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. c.8120C>T has been reported in the literature in individuals affected with autosomal recessive non-syndromic hearing loss (Bademci_2015, Sloan-Heggen_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as benign. Based on the evidence outlined above, the variant was classified as benign. |