Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001766446 | SCV001989053 | uncertain significance | not provided | 2020-02-06 | criteria provided, single submitter | clinical testing | Reported with a mosaic COL4A5 variant in a patient with Alport syndrome in published literature; this variant was present in the patient's unaffected father and sister (Yokota et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27796712, 31312776, 33229591) |
| Fulgent Genetics, |
RCV005004340 | SCV002816925 | uncertain significance | Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive | 2024-05-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001766446 | SCV003522314 | uncertain significance | not provided | 2024-02-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1231 of the COL4A3 protein (p.Gly1231Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with Alport syndrome (PMID: 27796712). ClinVar contains an entry for this variant (Variation ID: 554433). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL4A3 protein function. 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. |
| Counsyl | RCV000670065 | SCV000794878 | uncertain significance | Autosomal recessive Alport syndrome | 2017-10-18 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |