Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003717928 | SCV004519590 | uncertain significance | not provided | 2023-08-29 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 704 of the COL4A1 protein (p.Pro704His). |
| Ambry Genetics | RCV004614503 | SCV005103916 | uncertain significance | Inborn genetic diseases | 2024-03-25 | criteria provided, single submitter | clinical testing | The c.2111C>A (p.P704H) alteration is located in exon 29 (coding exon 29) of the COL4A1 gene. This alteration results from a C to A substitution at nucleotide position 2111, causing the proline (P) at amino acid position 704 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005013136 | SCV005632409 | uncertain significance | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 2024-05-13 | criteria provided, single submitter | clinical testing |