Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001315778 | SCV001506370 | pathogenic | not provided | 2024-05-11 | criteria provided, single submitter | clinical testing | This sequence change affects codon 245 of the COL4A4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL4A4 protein. This variant also falls at the last nucleotide of exon 12, which is part of the consensus splice site for this exon. This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has been observed in individuals with clinical features of Alport syndrome (PMID: 31934206; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 599163). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Mendelics | RCV002249448 | SCV002516278 | likely pathogenic | Benign familial hematuria | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005021144 | SCV005653623 | likely pathogenic | Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000735768 | SCV000863928 | uncertain significance | Autosomal dominant Alport syndrome | 2018-08-29 | no assertion criteria provided | clinical testing |