ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.764T>C (p.Leu255Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Glaucoma Variant Curation Expert Panel RCV003127212 SCV003803715 uncertain significance Glaucoma of childhood 2023-02-15 reviewed by expert panel curation The c.764T>C variant in MYOC is a missense variant predicted to cause substitution of Leucine by Proline at amino acid 255 (p.Leu255Pro). 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. The REVEL score = 0.421, which was neither above nor below the thresholds for PP3 (>=0.7) or BP4 (<=0.15), predicting a damaging or benign impact on MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. 5 segregations in 1 family, with juvenile or primary open angle glaucoma (JOAG or POAG), have been reported (PMID: 27485216), which fulfilled PP1_Moderate (5-6 meioses). Only 1 proband with JOAG had been reported (PMID: 27485216), not meeting the >=2 probands threshold required to meet PS4_Supporting. 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 juvenile open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PP1_Moderate, PM2_Supporting

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