ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.976G>A (p.Gly326Ser)

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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 RCV003148598 SCV003836512 uncertain significance Open-angle glaucoma 2023-02-15 reviewed by expert panel curation The c.976G>A variant in MYOC is a missense variant predicted to cause substitution of Glycine by Serine at amino acid 326 (p.Gly326Ser). The highest minor allele frequency of this variant was in the South Asian population of gnomAD (v2.1.1) = 0.00003267 (1 allele out of 30,608), which met the <=0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles. The REVEL score = 0.869, which met the >=0.7 threshold for PP3, predicting a damaging effect on MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. 3 segregations in 1 family, with primary open angle glaucoma (POAG), have been reported (PMID: 22879734), which fulfilled PP1 (3-4 meioses). Only 1 proband with POAG had been reported (PMID: 22879734), 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 primary open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PP1, PP3, PM2_Supporting

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