Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001998236 | SCV002257947 | uncertain significance | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. This sequence change replaces proline with alanine at codon 1273 of the COL4A2 protein (p.Pro1273Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs201442362, gnomAD 0.002%). ClinVar contains an entry for this variant (Variation ID: 1476886). 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 COL4A2 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. |
| Ambry Genetics | RCV002573458 | SCV003583684 | uncertain significance | Inborn genetic diseases | 2021-09-15 | criteria provided, single submitter | clinical testing | The c.3817C>G (p.P1273A) alteration is located in exon 41 (coding exon 40) of the COL4A2 gene. This alteration results from a C to G substitution at nucleotide position 3817, causing the proline (P) at amino acid position 1273 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |