Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002601028 | SCV002945649 | uncertain significance | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 611 of the C7 protein (p.Ala611Pro). This variant is present in population databases (rs752503418, gnomAD 0.006%). This missense change has been observed in individual(s) with C7-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1912703). 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 expected to disrupt C7 protein function with a positive predictive value of 80%. 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 | RCV004603208 | SCV005095874 | uncertain significance | Inborn genetic diseases | 2024-04-27 | criteria provided, single submitter | clinical testing | The c.1831G>C (p.A611P) alteration is located in exon 14 (coding exon 14) of the C7 gene. This alteration results from a G to C substitution at nucleotide position 1831, causing the alanine (A) at amino acid position 611 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |