Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001333463 | SCV001526043 | uncertain significance | Knobloch syndrome | 2018-02-26 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV001452439 | SCV001656103 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001452439 | SCV002525416 | uncertain significance | not provided | 2022-03-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Neuberg Centre For Genomic Medicine, |
RCV004546636 | SCV005042762 | uncertain significance | Knobloch syndrome 1 | criteria provided, single submitter | clinical testing | The missense c.3539G>A p.Arg1180Gln variant in COL18A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1180Gln variant is reported with allele frequency of 0.1% in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Benign / Uncertain Significance. The amino acid change p.Arg1180Gln in COL18A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 1180 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS. | |
Prevention |
RCV004548178 | SCV004725388 | likely benign | COL18A1-related disorder | 2022-06-28 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |