ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.154A>G (p.Ser52Gly)

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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 RCV003320020 SCV004024253 likely benign Open-angle glaucoma 2023-08-07 reviewed by expert panel curation The c.154A>G variant in MYOC is a missense variant predicted to cause substitution of Serine by Glycine at amino acid 52 (p.Ser52Gly). The highest minor allele frequency of this variant was in the East Asian population of gnomAD (v3.1.2) = 0.001154, which met the >= 0.001 threshold set for BS1 (6 alleles out of 5,200), meeting the threshold of >= 5 of at least 2,000 observed alleles). The REVEL score = 0.036, which met the <= 0.15 threshold for BP4, suggesting that the variant does not impact MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. Although a proband with primary open angle glaucoma had been reported carrying this variant, PM2_Supporting was not met, therefore PS4 did not apply. In summary, this variant met the criteria to receive a score of -5 and to be classified as likely benign (likely benign classification range -2 to -6) for primary open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): BS1, BP4.

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