ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.823A>T (p.Lys275Ter)

dbSNP: rs879255525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Glaucoma Variant Curation Expert Panel 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, University of the Punjab, Lahore RCV000239401 SCV000297715 risk factor Glaucoma 2016-06-22 no assertion criteria provided case-control

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