Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001965168 | SCV002207773 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1161 of the COL18A1 protein (p.Pro1161Leu). This variant is present in population databases (rs532834770, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1438410). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Neuberg Centre For Genomic Medicine, |
RCV003448437 | SCV004176704 | uncertain significance | Knobloch syndrome 1 | 2023-03-01 | criteria provided, single submitter | clinical testing | The missense c.3491C>T(p.Pro1164Leu) variant in COL18A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is reported with an allele frequency of 0.02% in the gnomAD exomes database and is novel (not in any individuals) in 1000 Genomes database. This variant has been reported to the ClinVar database as Uncertain significance. The amino acid change p.Pro1164Leu in COL18A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 1164 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance. |