Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000995089 | SCV001149089 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001253042 | SCV001428560 | uncertain significance | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000995089 | SCV002207843 | uncertain significance | not provided | 2021-10-18 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with COL4A1-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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL4A1 protein function. ClinVar contains an entry for this variant (Variation ID: 807045). This variant is present in population databases (rs773778552, ExAC 0.001%). This sequence change replaces aspartic acid with asparagine at codon 499 of the COL4A1 protein (p.Asp499Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. |
Fulgent Genetics, |
RCV002497297 | SCV002784485 | 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 | 2022-04-17 | criteria provided, single submitter | clinical testing |