Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780199 | SCV000917260 | uncertain significance | not specified | 2021-03-31 | criteria provided, single submitter | clinical testing | Variant summary: COL4A3 c.2020+18A>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00051 in 248840 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in COL4A3 causing Alport Syndrome, Autosomal Recessive (0.00051 vs 0.0019), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2020+18A>C in individuals affected with Alport Syndrome, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. No other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Labcorp Genetics |
RCV002061125 | SCV002423402 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing |