Prevalence Estimates of Predicted Pathogenic <i>COL4A3-COL4A5</i> Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

ABSTRACT:

Background

The reported prevalence of Alport syndrome varies from one in 5000 to one in 53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3-COL4A5 variants in sequencing databases of populations without known kidney disease.

Methods

Predicted pathogenic variants were identified using filtering steps based on the ACMG/AMP criteria, which considered collagen IV α3-α5 position 1 Gly to be critical domains. The population frequencies of predicted pathogenic COL4A3-COL4A5 variants were then determined per mean number of sequenced alleles. Population frequencies for compound heterozygous and digenic combinations were calculated from the results for heterozygous variants.

Results

COL4A3-COL4A5 variants re

SUBMITTER: Gibson J 

PROVIDER: S-EPMC8729840 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature