Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001757175 | SCV001996744 | uncertain significance | not provided | 2024-04-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease |
Fulgent Genetics, |
RCV002477956 | SCV002776206 | uncertain significance | Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001757175 | SCV003470270 | uncertain significance | not provided | 2021-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with aspartic acid at codon 1084 of the COL4A3 protein (p.Glu1084Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs766420056, ExAC 0.003%). This variant has not been reported in the literature in individuals with COL4A3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |