ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.781G>A (p.Glu261Lys)

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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 RCV002509853 SCV002818481 uncertain significance Glaucoma of childhood 2022-12-14 reviewed by expert panel curation The c.781G>A variant in MYOC is a missense variant predicted to cause substitution of Glutamate by Lysine at amino acid 261 (p.Glu261Lys). 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 = 0.628, 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. 3 probands with juvenile or primary open angle glaucoma have been reported carrying this variant (PMID: 10916185), which met PS4_Supporting (>= 2 probands). In summary, this variant met the criteria to receive a score of 2 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): PS4_Supporting, PM2_Supporting.

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