Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003319978 | SCV004024246 | uncertain significance | Open-angle glaucoma | 2023-08-07 | reviewed by expert panel | curation | The c.823A>T variant in MYOC is predicted to cause a change in the length of the protein due to the insertion of a terminating codon instead of the usual Lysine at amino acid 275 (p.Lys275Ter). This variant is predicted to cause a deletion of >= 10% of the protein within the conserved olfactomedin domain, meeting PM4. This variant was not found in any population of gnomAD (v2.1.1), meeting the <= 0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles. There was no computational or functional evidence predicting a damaging or benign impact of this variant on MYOC function. Although variant carriers were included in a submission to ClinVar (SCV000297715.1), proband numbers and affection status could not be verified, therefore PS4 was not met. In summary, this variant met the criteria to receive a score of 3 and to be classified as a variant of uncertain significance (uncertain significance classification range -1 to 5) for primary open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PM4, PM2_Supporting |
Department of Zoology, |
RCV000239401 | SCV000297715 | risk factor | Glaucoma | 2016-06-22 | no assertion criteria provided | case-control |