ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.284T>C (p.Leu95Pro)

dbSNP: rs2102951436
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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 RCV001838862 SCV002098417 uncertain significance Glaucoma 1, open angle, E 2022-02-20 reviewed by expert panel curation The c.284T>C variant in MYOC is a missense variant predicted to cause substitution of Leucine by Proline at amino acid 95 (p.Leu95Pro). 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 = 0.299, 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. A previous study (PMID: 16466712) demonstrated that the Leu95Pro protein had similar secretion levels to wild type myocilin protein and met the OddsPath threshold for BS3_Moderate (< 0.23), indicating that this variant did not impact protein function. This variant has not yet been identified in a proband with juvenile or primary open angle glaucoma, only in participants of the control cohorts, thus PS4 did not apply. In summary, this variant met the criteria to receive a score of -1 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): BS3_Moderate, PM2_Supporting

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